Glossary of Genetics

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Glossary of Genetic Terms See Glossary of genetic testing terms

DNA_animation


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A[edit | edit source]

ACGT
ACGT, the four nucleotides that make up DNA—adenine (A), cytosine (C), guanine (G), and thymine (T)—represent the genetic code's basic units.
Amniocentesis_results_showing_47,_XYY_karyotype
AMELX
AMELX, a gene located on the X chromosome that encodes for a protein involved in the development of tooth enamel, and mutations in AMELX can lead to amelogenesis imperfecta.
AMELY
AMELY, the amelogenin gene located on the Y chromosome, similar to AMELX on the X chromosome, used in forensic science for gender determination.
Ac/Ds transposable controlling elements
Ac/Ds transposable controlling elements, components of the maize genome discovered by Barbara McClintock, which can change position within the genome (transposable elements).
Accessory gene regulator
Accessory gene regulator, a gene system controlling virulence factors in certain bacteria such as Staphylococcus aureus.
Acquired Immunodeficiency Syndrome (AIDS)
Acquired Immunodeficiency Syndrome, a disease caused by the human immunodeficiency virus (HIV) that leads to a weakened immune system.
Active chromatin sequence
Active chromatin sequence, regions of DNA that are uncoiled and accessible for transcription factors and RNA polymerase to bind and initiate gene expression.
Additive genetic effects
Additive genetic effects, the sum of individual effects of all alleles for a given trait, important in predicting response to selection in breeding programs.
Adenine
Adenine, one of the four nucleotide bases in DNA and RNA that pairs with thymine in DNA and with uracil in RNA.
Agouti coloration genetics
Agouti coloration genetics, the genetic mechanism controlling the agouti pattern seen in the coats of various animals, caused by the agouti signaling protein.
Agricultural weed syndrome
Agricultural weed syndrome, the genetic traits that enable a plant species to thrive in agricultural environments, often leading to them being classified as weeds.
Ahna Skop
Ahna Skop, a geneticist known for her work on the molecular mechanisms of cell division and its relation to aneuploidy and cancer.
Aicardi–Goutières syndrome
Aicardi–Goutières syndrome, a rare genetic disorder that affects the brain, immune system, and skin.
Allele
Allele, a variant form of a gene at a particular locus on a chromosome; different alleles can result in different observable phenotypic traits.
Allelic exclusion
Allelic exclusion, a process by which only one allele of a gene is expressed while the other is silenced, common in the immune system.
Allotype (immunology)
Allotype, an allele of a protein that is antigenically distinct, commonly used in reference to antibodies produced by the immune system.
Ambidirectional dominance
Ambidirectional dominance, a rare genetic dominance phenomenon where both alleles at a gene locus show dominance in a heterozygous individual.
Amelogenin
Amelogenin, a protein critical in the formation of enamel in teeth, with genes located on both the X and Y chromosomes.
Amino Acids
Amino Acids, the building blocks of proteins, which are encoded by sequences of three nucleotides called codons in the DNA.
Ancestry-informative Markers
Ancestry-informative Markers, genetic markers that give information about an individual’s ancestry, useful in genetic epidemiology.
Animal Model
Animal Model, a non-human animal used in laboratory research to help scientists understand biological processes and diseases.
Aniridia
Aniridia, a genetic disorder characterized by the absence of the iris in the eye, usually caused by mutations in the PAX6 gene.
Antagonistic pleiotropy hypothesis
Antagonistic pleiotropy hypothesis, a theory suggesting that certain genetic variants may have both beneficial and detrimental effects, which can influence the aging process.
Antibody
Antibody, a protein produced by the immune system that recognizes and binds to specific antigens, aiding in their neutralization or destruction.
Anticodon
Anticodon, a sequence of three nucleotides in transfer RNA that is complementary to a specific codon in messenger RNA.
Antigenic escape
Antigenic escape, the process by which pathogens alter their surface proteins to evade detection by the immune system.
Antisense
Antisense, a strand of nucleic acid that is complementary to the sense strand of DNA or RNA, used in gene regulation and therapeutic interventions.
Apoptosis
Apoptosis, programmed cell death, a controlled process by which cells self-destruct for the maintenance of cellular homeostasis or development.
Atavism
Atavism, the reappearance of ancestral traits in modern organisms due to genetic recombination or mutation.
Autism
Autism, a developmental disorder with a strong genetic component, characterized by challenges in communication and social interaction.
Autogamy depression
Autogamy depression, reduced fitness as a result of self-fertilization, which can lead to increased expression of deleterious alleles.
Autosomal Dominant
Autosomal Dominant, a pattern of inheritance where a trait is expressed when only one copy of the variant allele is present on an autosome.
Autosome
Autosome, any chromosome that is not a sex chromosome; humans have 22 pairs of autosomes and one pair of sex chromosomes.

B[edit | edit source]

BLOSUM
BLOSUM, a substitution matrix used for sequence alignment of proteins, which predicts the probability of substitution between amino acids during evolution.
BRCA1/BRCA2
BRCA1/BRCA2, two genes associated with hereditary breast and ovarian cancer syndromes; mutations in these genes increase cancer risk.
Backcrossing
Backcrossing, a breeding method used to introduce one or a few genes from one animal or plant breed or line into another.
Bacteria
Bacteria, single-celled organisms that can be found in every ecosystem and are involved in various biological processes, including genetic transfer.
Bacterial Artificial Chromosome (BAC)
Bacterial Artificial Chromosome, a large plasmid used to clone DNA fragments between 100,000 and 300,000 base pairs in bacterial cells.
Barr body
Barr body, an inactivated X chromosome found in female cells, visible as a dense spot within the cell nucleus; named after Murray Barr.
Base Pair
Base Pair, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds, such as A-T and G-C.
Bead theory
Bead theory, an early concept of gene structure proposing that genes are strung together on the chromosome like beads on a necklace.
BRCA Genes
Benzoxazinone biosynthesis
Benzoxazinone biosynthesis, a chemical pathway in certain plants producing benzoxazinoids, compounds important for defense against pests.
Bioecological model
Bioecological model, a theoretical model for studying genetic and environmental influences on individual behavior and development.
Bioinformatics
Bioinformatics, a field that combines biology, computer science, and information technology to analyze and interpret biological data, especially genetic sequences.
Birth Defect
Birth Defect, an abnormality in structure, function, or metabolism present at birth that may result in physical or mental disability or death.
Blood type
Blood type, genetically determined antigen properties of red blood cells, significant for blood transfusions and paternity testing.
Bradykinin hypothesis
Bradykinin hypothesis, a theory suggesting that elevated bradykinin levels contribute to the chronic pain seen in diseases like fibromyalgia.
Britten–Davidson model
Britten–Davidson model, a model of gene regulation in eukaryotes that postulates a role for repetitive sequences in controlling transcription.
Bulked segregant analysis
Bulked segregant analysis, a method to detect markers linked to a particular genetic trait by comparing pooled DNA samples from different phenotypic classes.
Bump and hole
Bump and hole, a molecular biology technique used to study protein function by creating a specific binding site for a modified protein or enzyme.
Bx1 benzoxazin1
Bx1 benzoxazin1, a gene involved in the biosynthesis of benzoxazinoids, which are defense compounds in some cereal plants.

C[edit | edit source]

C14orf119
C14orf119, a human gene of unknown function located on chromosome 14 within an open reading frame, a segment of DNA that could potentially encode a protein.
C16orf90
C16orf90, a human gene with unknown function, located on chromosome 16; orf stands for open reading frame, which may encode a protein.
C17orf75
C17orf75, a human gene of unknown function, identified as an open reading frame (orf) on chromosome 17.
C3orf56
C3orf56, a human gene of unknown function, located on chromosome 3; part of a group of genes known as open reading frames (orfs).
CLIP4
CLIP4, a gene encoding for CAP-Gly domain-containing linker protein 4, implicated in processes like cell division and intracellular transport.
CRT (genetics)
CRT (genetics), a genetic term that may refer to "cancer resistance trait," a phenotype where certain animals are less prone to cancer.
CaSNP
CaSNP, a calcium-sensing noncoding RNA polymorphism, which may play a role in regulating calcium homeostasis in the body.
Cancer
Cancer, a group of diseases characterized by uncontrolled cell division leading to growths or tumors that can spread to other parts of the body.
Candidate Gene
Candidate Gene, a gene whose location or function suggests it may contribute to a specific hereditary trait or disease.
Carcinogen
Carcinogen, any substance that can cause cancer by altering cellular metabolism or damaging DNA directly in cells.
Carrier
Carrier, an individual who has one copy of a recessive gene for a genetic disorder and does not exhibit symptoms but can pass the gene to offspring.
Carrier Screening
Carrier Screening, testing individuals or couples for carrier status of autosomal recessive or X-linked genetic disorders.
Cell
Cell, the basic structural, functional, and biological unit of all known living organisms, containing genetic material.
Cell Cycle
Cell Cycle, the series of events that take place in a cell leading to its growth, replication, and division into two daughter cells.
Cell Membrane (Plasma Membrane)
Cell Membrane, the biological membrane that separates the interior of a cell from the outside environment, composed of a phospholipid bilayer.
Cell–cell fusogens
Cell–cell fusogens, proteins that mediate the fusion of cell membranes during processes like fertilization and muscle development.
Centimorgan
Centimorgan, a unit of measure of genetic linkage that describes the distance between chromosome positions.
Centriole
Centriole, a small cylindrical cell structure that is involved in the process of cell division and the formation of cell's cytoskeleton.
Centromere
Centromere, the part of a chromosome that links sister chromatids or a chromosome's constriction point that separates its short and long arms.
Centrosome
Centrosome, an organelle serving as the main microtubule organizing center of the cell and is important during cell division.
Chaperone code
Chaperone code, refers to the hypothesis that molecular chaperones influence the folding and interactions of proteins inside the cell.
Chemical genetics
Chemical genetics, a research method that uses small molecules to selectively interfere with gene expression or protein function to study biological processes.
Chemogenetics
Chemogenetics, a technique in genetics for controlling biological processes with chemically synthesized molecules.
Chi site
Chi site, a DNA sequence that stimulates the activity of the RecBCD enzyme, important in genetic recombination and DNA repair.
Chiasma (genetics)
Chiasma, the point of contact between two (non-sister) chromatids belonging to homologous chromosomes during crossing over.
Chimera (molecular biology)
Chimera, in molecular biology, an organism, or tissue created from cells from two or more individuals of different species.
Chromatid
Chromatid, each of the two thread-like strands into which a chromosome divides longitudinally during cell division.
Chromatin
Chromatin, the complex of DNA and protein found in eukaryotic cells; its primary function is packaging long DNA molecules into more compact, dense shapes.
Chromosome
Chromosome, a long DNA molecule with part or all of the genetic material of an organism, found in the nucleus of eukaryotic organisms.
Cloning
Cloning, the process of creating genetically identical copies of biological matter, which could include a gene, a cell, or a whole organism.
Codominance
Codominance, a form of inheritance where both alleles of a gene pair in a heterozygote are fully expressed.
Codon
Codon, a sequence of three nucleotides that together form a unit of genetic code in a DNA or RNA molecule, corresponding to a specific amino acid or stop signal during protein synthesis.
Codon reassignment
Codon reassignment, a genetic code alteration where the standard codon assignments have been changed in an organism's genome.
Coefficient of coincidence
Coefficient of coincidence, a measure of the level of interference between crossovers during meiosis; the degree to which one crossover affects the probability of another.
Color Genomics
Color Genomics, a company that provides genetic testing for hereditary cancer and high cholesterol risk as well as genetic counseling services.
Common misunderstandings of genetics
Common misunderstandings of genetics, common misconceptions about how genetics influence human traits and behaviors.
Complex Disease
Complex Disease, a disease caused by an interaction between the environment and multiple genes, such as heart disease, most cancers, and diabetes.
Compound heterozygosity
Compound heterozygosity, the presence of two different mutant alleles at a particular gene locus, one on each chromosome of a pair.
Congenic
Congenic, strains of animals or plants that are genetically identical except for a small region of the genome.
Congenital
Congenital, a condition that is present at birth, which can result from genetic or environmental factors, or a combination of both.
Conservation genomics
Conservation genomics, the application of genomics to biodiversity conservation issues, such as understanding the genetic diversity of endangered species.
Constitutive ablation
Constitutive ablation, the removal or deletion of a gene, which results in the gene being inactivated in all tissues at all times.
Contig
Contig, a set of overlapping DNA segments that together represent a consensus region of DNA.
Copy Number Variation (CNV)
Copy Number Variation, a phenomenon in which sections of the genome are repeated and the number of repeats varies between individuals in the human population.
Copy number analysis
Copy number analysis, techniques used to determine the number of copies of a particular gene or DNA sequence present in the genome of an organism.
Cotransformation
Cotransformation, the simultaneous transformation of two or more genes within a cell, often used in genetic research to study gene function.
Countergradient variation
Countergradient variation, genetic variation that counteracts environmental influences, allowing a population to maintain a consistent phenotype.
Crossing Over
Crossing Over, the exchange of genetic material between homologous chromosomes during meiosis, leading to genetic diversity.
Cultural hitchhiking
Cultural hitchhiking, the process by which genetic traits are spread as a byproduct of cultural practices, like selective breeding in agriculture.
Cystic Fibrosis
Cystic Fibrosis, a hereditary disease affecting the exocrine glands, causing the production of abnormally thick mucus, leading to the blockage of the pancreatic ducts, intestines, and bronchi.
Cytodeme
Cytodeme, a group of organisms with the same karyotype, or set of chromosomes, typically used in the context of plants and protozoa.
Cytogeneticist
Cytogeneticist, a specialist in cytogenetics, the study of the structure and function of the cell, especially the chromosomes.
Cytogenetics
Cytogenetics, the branch of genetics that studies how the chromosomes relate to cell behavior, particularly during mitosis and meiosis.
Cytoplasm
Cytoplasm, the material within a cell, excluding the nucleus, containing organelles, cytosol, and inclusions.
Cytosine
Cytosine, a pyrimidine nucleotide that pairs with guanine in DNA and RNA; a component of the genetic code.
Cytotaxonomy
Cytotaxonomy, the classification of organisms based on the structure, number, and behavior of their chromosomes.

D[edit | edit source]

DNA (Deoxyribonucleic Acid)
DNA, the molecule that contains the genetic instructions used in the development and functioning of all known living organisms and some viruses.
DNA Fingerprinting
DNA Fingerprinting, a technique used for identification by extracting and identifying the base-pair pattern of an individual's DNA.
DNA Replication
DNA Replication, the process by which a DNA molecule makes a copy of itself, occurring in all living organisms.
DNA Sequencing
DNA Sequencing, the process of determining the precise order of nucleotides within a DNA molecule.
DNase I hypersensitive site
DNase I hypersensitive site, regions of chromatin that are sensitive to digestion by the DNase I enzyme, indicating an open chromatin state associated with active gene transcription.
Deletion
Deletion, a type of chromosomal abnormality in which a segment of the chromosome is removed or lost.
Deme (biology)
Deme, a population of organisms that actively interbreed with each other and share a distinct gene pool.
Dermatoglyphics
Dermatoglyphics, the study of the patterns of ridges on the skin of the fingers, palms, toes, and soles; often used in forensic science.
Developmental homeostasis
Developmental homeostasis, the ability of an organism to regulate its development and internal environment, leading to a stable phenotype despite genetic variation or external environmental fluctuations.
Diabetes (Diabetes Mellitus)
Diabetes, a group of diseases that result in too much sugar in the blood (high blood glucose), commonly due to a malfunction in insulin production or function.
Diallel cross
Diallel cross, a mating scheme in which each of several genotypes is crossed to all others, including itself, often used in genetics to study inheritance patterns.
Diploid
Diploid, a cell or organism that has paired chromosomes, one from each parent, typically represented as 2n.
Direct repeat
Direct repeat, sequences of DNA that consist of two or more repeats directly adjacent to each other.
Dishevelled binding antagonist of beta catenin 1
Dishevelled binding antagonist of beta catenin 1, a protein that may play a role in the Wnt signaling pathway, involved in the regulation of cell fate and patterning during development.
Distal promoter
Distal promoter, a promoter located upstream of the gene's core promoter, which may enhance or repress transcription.
Distyly
Distyly, a genetic mechanism in certain plants that ensures cross-pollination by having two flower morphologies with different arrangements of stamens and pistils.
Diversity panel
Diversity panel, a collection of genetic sequences from different individuals or species used to study genetic variation.
Domestication islands
Domestication islands, genomic regions that contain genes which have been selectively swept during domestication, leading to reduced genetic diversity in those regions.
Domestication syndrome
Domestication syndrome, the set of phenotypic traits arising during domestication that distinguish domesticated animals from their wild ancestors.
Dominant
Dominant, a genetic trait that is expressed when its allele is present in a single copy in a diploid organism, overpowering a recessive allele if present.
Double Helix
Double Helix, the structure formed by double-stranded molecules of nucleic acids such as DNA due to the twisting of the strands around each other.
Doubled haploidy
Doubled haploidy, a technique used in plant genetics to create homozygous lines from a heterozygous plant, leading to uniform and stable genotypes for breeding.
Down Syndrome (Trisomy 21)
Down Syndrome, a genetic disorder caused by the presence of all or part of a third copy of chromosome 21, also known as trisomy 21.
Downregulation and upregulation
Downregulation and upregulation, terms describing the processes that decrease or increase, respectively, the response to a substance, often involving changes in gene expression.
Drifty gene hypothesis
Drifty gene hypothesis, a hypothesis that attributes obesity to genetic drift in the genes controlling the upper limit of body fatness, without selective pressure.
Drosophila hybrid sterility
Drosophila hybrid sterility, the sterility observed in hybrids between different species of Drosophila, often used as a model to study speciation.
Duplication
Duplication, a mutation that involves the doubling of a section of genetic material within the genome, leading to additional copies of chromosomes or genes.
Dynamical genetics
Dynamical genetics, a field of genetics that combines genetic information with the dynamics of biological systems to understand the behavior of genes over time.

E[edit | edit source]

Ectoderm specification
Ectoderm specification, the developmental process by which the ectoderm layer of the embryo is instructed to form the nervous system and skin.
Elective genetic and genomic testing
Elective genetic and genomic testing, testing that is chosen by an individual, often for non-medical reasons, such as ancestry or paternity determination.
Electrophoresis
Electrophoresis, a laboratory technique used to separate DNA, RNA, or protein molecules based on their size and electrical charge for analytical purposes.
Emergenesis
Emergenesis, the phenomenon in which genetic traits only emerge under certain rare combinations of genes, often seen in traits with high heritability.
Emopamil binding protein
Emopamil binding protein, a protein that may be involved in the regulation of sterol synthesis in cells.
Endemixit
Endemixit, a rare genetic condition where an organism is homozygous for all genes due to inbreeding within an isolated population.
Endoplasmic Reticulum (Rough)
Endoplasmic Reticulum, a network of tubular membranes within the cytoplasm of the cell, involved in the synthesis and modification of proteins; the 'rough' part has ribosomes on its surface.
Endoplasmic Reticulum (Smooth)
Endoplasmic Reticulum, similar to the rough endoplasmic reticulum but without ribosomes, involved in the synthesis of lipids and steroid hormones.
Endoreduplication
Endoreduplication, a cellular process in which the cell replicates its genome without cell division, resulting in cells with multiple sets of chromosomes.
Enhanceosome
Enhanceosome, a complex of proteins that binds to an enhancer to increase the likelihood of transcription of a particular gene.
Enhancer trap
Enhancer trap, a genetic technique used to identify regulatory sequences in the genome that are capable of enhancing gene expression.
Enzyme
Enzyme, a protein that catalyzes chemical reactions in living organisms, essentially acting as a biological catalyst.
Epigenetics
Epigenetics, the study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence.
Epigenome
Epigenome, the complete set of epigenetic modifications on the genetic material of a cell, known as the "epigenetic landscape" of a cell.
Epistasis
Epistasis, an interaction between genes in which the presence of a particular allele of one gene affects the expression of another gene.
Evo-devo gene toolkit
Evo-devo gene toolkit, a collection of genes that play a crucial role in the early development of organisms and are responsible for shaping the basic body plan.
Evolution
Evolution, the change in the heritable characteristics of biological populations over successive generations.
Exome
Exome, the part of the genome consisting of exons, the sequences which code for protein.
Exon
Exon, a segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence.
Exon skipping
Exon skipping, a form of RNA splicing used to cause cells to "skip" over faulty or misaligned sections of genetic code, leading to a truncated but functional protein.
Exonic splicing enhancer
Exonic splicing enhancer, a sequence within an exon that promotes RNA splicing and the inclusion of the exon into the mature mRNA.
Exonic splicing silencer
Exonic splicing silencer, a sequence within an exon that inhibits RNA splicing, leading to the exclusion of the exon from the mature mRNA.
Extrachromosomal array
Extrachromosomal array, a circular DNA element that is not part of a chromosome, often used as a tool in genetic engineering.
Extranuclear inheritance
Extranuclear inheritance, the inheritance of genetic material not located within the nucleus, such as mitochondrial DNA.

F[edit | edit source]

FAM110A
FAM110A, a gene coding for a family with sequence similarity 110, member A, the function of which may be involved in cell cycle control.
FAM180b
FAM180b, a gene coding for a protein that may be involved in cellular structure or signaling.
Family History
Family History, information about health and diseases in relatives, which may provide insight into genetic risks for individuals in the family.
Ferulic acid decarboxylase
Ferulic acid decarboxylase, an enzyme that converts ferulic acid to 4-vinyl guaiacol in the biosynthesis of volatile phenols.
Fibroblast
Fibroblast, a type of cell that synthesizes the extracellular matrix and collagen, playing a critical role in wound healing and tissue repair.
Fim switch
Fim switch, a genetic mechanism that allows bacteria to alternate between different types of fimbriae, which are hair-like appendages on the bacterial cell surface.
First Degree Relative
First Degree Relative, an immediate family member, such as a parent, sibling, or child, often relevant in the context of hereditary diseases.
Fisher's geometric model
Fisher's geometric model, a model of the fitness landscape in which the effect of mutations is influenced by the organism's distance from an optimal phenotype.
Fluorescence In Situ Hybridization (FISH)
Fluorescence In Situ Hybridization, a cytogenetic technique that uses fluorescent probes to detect the presence or absence of specific DNA sequences on chromosomes.
Forward genetics
Forward genetics, an approach used to identify genes or set of genes responsible for a particular phenotype of an organism.
Founder Effect
Founder Effect, a reduction in genetic variation that results when a new population is established by a very small number of individuals from a larger population.
Fragile X Syndrome
Fragile X Syndrome, a genetic disorder characterized by mild-to-moderate intellectual disability and caused by a mutation in the FMR1 gene.
Frameshift Mutation
Frameshift Mutation, a genetic mutation caused by a deletion or insertion in a DNA sequence that shifts the way the sequence is read.
Fraternal Twins
Fraternal Twins, twins that develop from two different eggs fertilized by two different sperm, resulting in siblings that are not genetically identical.
Functional divergence
Functional divergence, the process by which genes or proteins that were originally similar in function evolve to have different functions.

G[edit | edit source]

GAL4/UAS system
GAL4/UAS system, a genetic method used in model organisms to control gene expression, particularly in Drosophila.
GNC hypothesis
GNC hypothesis, a hypothesis in genetics that suggests genes tend to be inherited together due to their physical proximity on chromosomes.
Gametic phase
Gametic phase, a period in the lifecycle of a sexually reproducing organism during which the gametes, or sex cells, are generated.
Gene
Gene, the basic physical and functional unit of heredity, made up of DNA and located on chromosomes.
Gene Amplification
Gene Amplification, an increase in the number of copies of a particular gene, often leading to an increase in protein production.
Gene Environment Interaction
Gene Environment Interaction, a situation in which environmental factors affect genes and contribute to the development and behavior of an organism.
Gene Expression
Gene Expression, the process by which information from a gene is used to synthesize a functional gene product, such as a protein.
Gene Mapping
Gene Mapping, determining the specific locations of genes on a chromosome and the distance between genes.
Gene Pool
Gene Pool, the complete set of unique alleles that would be found by surveying the genetic material of every living member of a species or population.
Gene Regulation
Gene Regulation, the process of turning genes on and off to ensure that the appropriate proteins are produced at the right time and place.
Gene Therapy
Gene Therapy, a technique that modifies a person's genes to treat or prevent disease, often by replacing malfunctioning genes with healthy ones.
Gene cassette
Gene cassette, a type of mobile genetic element that contains a gene and a recombination site, which can be inserted into integrons.
Gene mapping
Gene mapping, the process of determining the location and chemical sequence of specific genes on specific chromosomes.
Gene orders
Gene orders, the arrangement of genes on a chromosome, which can be crucial for gene regulation and expression.
Gene regulatory circuit
Gene regulatory circuit, a network of genes and their regulatory elements that interact to control gene expression levels.
Gene signature
Gene signature, a unique pattern of gene expression that can be used to identify cell types, disease states, or predict outcomes.
Gene theft
Gene theft, also known as horizontal gene transfer, a process by which one organism acquires the genes of another organism.
Gene transfer agent
Gene transfer agent, a particle produced by some bacteria that can transfer genetic material to other cells.
Gene trapping
Gene trapping, a technique used to identify and mutate genes in order to study their function.
Generation of Animals
Generation of Animals, a classical work by Aristotle that examines the phenomenon of animal reproduction.
Genetic Code
Genetic Code, the set of rules by which information encoded in genetic material (DNA or RNA sequences) is translated into proteins by living cells.
Genetic Counseling
Genetic Counseling, the process of advising individuals and families about the risks, implications, and nature of genetic disorders.
Genetic Discrimination
Genetic Discrimination, unfair treatment of individuals based on their genetic information, which can be addressed by laws like GINA.
Genetic Drift
Genetic Drift, a process in which allele frequencies within a population change randomly with no influence by selection pressures.
Genetic Engineering
Genetic Engineering, the direct manipulation of an organism's genes using biotechnology.
Genetic Epidemiology
Genetic Epidemiology, the study of the role of genetic factors in determining health and disease in families and in populations.
Genetic Imprinting
Genetic Imprinting, an epigenetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner.
Genetic Information Nondiscrimination Act (GINA)
Genetic Information Nondiscrimination Act, a federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.
Genetic Map
Genetic Map, a map of a species' genome that shows the position of its genes and genetic markers.
Genetic Marker
Genetic Marker, a gene or sequence on a chromosome that can be used to identify individuals or species.
Genetic Screening
Genetic Screening, the testing of a population for the presence of genetic disorders or susceptibilities to certain diseases.
Genetic Testing
Genetic Testing, the analysis of chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes.
Genetic Variation
Genetic Variation, differences in the genetic makeup among individuals within a population or between populations.
Genetic analysis
Genetic analysis, the use of a combination of techniques to study gene structures and functions.
Genetic architecture
Genetic architecture, the underlying genetic basis of a phenotypic trait and its variability within a population.
Genetic code
Genetic code, the set of rules used by living cells to translate information encoded within genetic material into proteins.
Genetic demixing
Genetic demixing, a phenomenon where different genotypes segregate from each other within a population.
Genetic ecology
Genetic ecology, a scientific field that applies genetic methods to the study of ecological processes and biodiversity.
Genetic exceptionalism
Genetic exceptionalism, the belief that genetic information is fundamentally different from other types of health-related information.
Genetic imbalance
Genetic imbalance, a situation where there is an abnormal number of chromosomes or chromosomal regions within a cell, leading to diseases like cancer.
Genetic interaction network
Genetic interaction network, a representation of the different interactions between genes within an organism.
Genetic matchmaking
Genetic matchmaking, the use of genetic information to predict compatibility between potential mates.
Genetic predisposition
Genetic predisposition, the increased likelihood of developing a particular disease based on a person's genetic makeup.
Genetic program
Genetic program, a set sequence of events initiated within a cell that lead to a certain outcome such as cell differentiation or death.
Genetic resources
Genetic resources, genetic material of actual or potential value, often used in the context of conservation and agriculture.
Genetic resources conservation and sustainable use
Genetic resources conservation and sustainable use, the responsible management of genetic diversity for the long-term benefit of current and future generations.
Genetic structure
Genetic structure, the distribution of genetic variation within and between populations, influenced by forces like mutation, selection, and drift.
Genetic viability
Genetic viability, the ability of genetic material to survive and reproduce itself, ensuring the survival of genetic diversity.
Genetics
Genetics, the study of heredity and the variation of inherited characteristics.
Genetics in fiction
Genetics in fiction, the portrayal of genetic themes and concepts in fictional works, which often explores the ethical, social, and moral implications of genetic science.
Genetics nursing
Genetics nursing, a nursing specialty that focuses on the management of patients with genetic disorders and the integration of genetic principles into healthcare practice.
Genetics of infertility
Genetics of infertility, the study of genetic factors that contribute to infertility in humans and other organisms.
Genetics of post-traumatic stress disorder
Genetics of post-traumatic stress disorder, the study of how genetic factors contribute to the risk of developing PTSD.
Genetics of synesthesia
Genetics of synesthesia, the investigation into the hereditary nature and genetic basis of synesthesia, a condition where stimulation of one sensory pathway leads to involuntary experiences in a second sensory pathway.
Genevestigator
Genevestigator, an online platform for the meta-analysis of gene expression data.
Genome
Genome, the complete set of genes or genetic material present in a cell or organism.
Genome India Project
Genome India Project, a large-scale collaborative effort to analyze the genomes of a diverse population of individuals from India to understand the genetic diversity and health implications for the Indian population.
Genome-Wide Association Studies (GWAS)
Genome-Wide Association Studies, studies that scan the genomes of many individuals to find genetic markers that can be associated with a particular trait, condition, or disease.
Genome-wide CRISPR-Cas9 knockout screens
Genome-wide CRISPR-Cas9 knockout screens, a method to systematically inactivate genes across the genome using the CRISPR-Cas9 system to study their functions.
Genomic convergence
Genomic convergence, the process by which independent evolutionary events lead to similar genomic features or gene sequences.
Genomics
Genomics, the study of the structure, function, evolution, and mapping of genomes.
Genopolitics
Genopolitics, the study of the influence of genetic variation on political behavior and attitudes.
Genosome
Genosome, a hypothetical entity postulated in genetic studies; sometimes used informally to describe a set of genes.
Genotropism
Genotropism, a hypothetical phenomenon where individuals are attracted to others with similar genotypes.
Genotype
Genotype, the genetic constitution of an individual organism.
Genotype–phenotype distinction
Genotype–phenotype distinction, the difference between the genetic makeup of an organism and the physical and functional manifestation of those genes.
Genotype–phenotype map
Genotype–phenotype map, the complex relationship between the genetic information an organism carries and the traits it displays.
Genotyping by sequencing
Genotyping by sequencing, a method used to discover genetic polymorphisms and perform genotyping by sequencing DNA directly.
Germ Line
Germ Line, the sequence of cells that have genetic material that may be passed to a child.
Germline mosaicism
Germline mosaicism, a condition in which some gametes of an individual contain a genetic mutation, while the rest are normal, resulting in a proportion of offspring with the mutation, despite the parents having a normal genotype.
Golgi Body
Golgi Body, an organelle in cells that modifies, sorts, and packages proteins for secretion or for use within the cell.
Guanine
Guanine, one of the four main nucleobases found in the nucleic acids DNA and RNA, which pairs with cytosine.

H[edit | edit source]

HSPB7
HSPB7, a gene encoding a member of the small heat shock protein family, which may play a role in cardiac muscle development and function.
Halperin-Birk syndrome
Halperin-Birk syndrome, a genetic condition, possibly fictional or an error, as it does not appear in medical literature.
HapMap
HapMap, a public resource that provided data on common genetic variants in different human populations, used in association studies and genetic linkage analysis.
Haplogroup Z
Haplogroup Z, a mitochondrial DNA haplogroup found in some populations, used in genetic anthropology to trace maternal lineage.
Haploid
Haploid, having a single set of unpaired chromosomes, typically seen in gametes (sex cells).
Haploidisation
Haploidisation, a process by which a diploid cell becomes haploid, often used in plant breeding to produce homozygous lines.
Haploinsufficiency
Haploinsufficiency, a situation where a single functional copy of a gene does not produce enough of a gene product to bring about a normal phenotype, leading to an abnormal condition.
Haplotype
Haplotype, a group of genes within an organism that are inherited together from a single parent.
Haplotype-relative-risk
Haplotype-relative-risk, a statistical measure used in genetic studies to estimate the risk associated with a particular haplotype in the development of a disease.
Hayflick limit
Hayflick limit, the number of times a normal human cell population will divide before cell division stops, associated with the length of telomeres.
Heme transporter
Heme transporter, a protein that facilitates the transport of heme, an essential component of hemoglobin and other important enzymes, across cell membranes.
Hemophilia
Hemophilia, a genetic disorder that impairs the body's ability to make blood clots, leading to excessive bleeding.
Hereditary carrier
Hereditary carrier, an individual who carries and may pass on a genetic mutation associated with a disease and may or may not display disease symptoms.
Heredity
Heredity, the passing on of physical or mental characteristics genetically from one generation to another.
Heterogamy
Heterogamy, the production of dissimilar gametes, such as the egg and sperm in humans.
Heterozygous
Heterozygous, having two different alleles of a particular gene or genes.
Hilpda
Hilpda, a gene that encodes a hypoxia-inducible lipid droplet-associated protein, which may be involved in lipid storage and metabolism.
Histone
Histone, a protein that associates with DNA in the cell nucleus and helps condense it into chromatin.
History of genetics
History of genetics, a summary of the major events and developments in the field of genetics from ancient times to the present.
Holoprosencephaly
Holoprosencephaly, a congenital disorder caused by the failure of the prosencephalon (the forebrain of the embryo) to sufficiently divide into the double lobes of the cerebral hemispheres, leading to facial abnormalities.
Homologous Recombination
Homologous Recombination, a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical molecules of DNA.
Homozygous
Homozygous, having two identical alleles of a particular gene or genes.
Horizontal gene transfer in evolution
Horizontal gene transfer in evolution, the process of exchanging genetic material between different species, contributing to genetic diversity and evolution.
Hovlinc
Hovlinc, a hypothetical gene or non-coding RNA sequence, not identified in scientific literature.
Human Genome Project
Human Genome Project, a research initiative that aimed to map all the genes of the human genome from both a physical and functional standpoint.
Human epigenome
Human epigenome, the complete set of epigenetic modifications on the genetic material of a human cell.
Human germline engineering
Human germline engineering, the process by which genetic modifications are made to human gametes, zygotes, or embryos, potentially affecting future generations.
Human somatic variation
Human somatic variation, genetic diversity that occurs within the cells of a single organism's body, excluding the germ cells.
Huntington's Disease
Huntington's Disease, a hereditary neurodegenerative disorder characterized by abnormal body movements, a decline in cognitive function, and psychiatric problems.
Hybrid speciation
Hybrid speciation, the process of speciation where hybridization between two different species leads to a new species, reproductively isolated from the parent species.
Hybridization
Hybridization, the process of mating or crossing two individuals with different characteristics to produce a hybrid.
Hybrizyme
Hybrizyme, possibly a fictional or proprietary term, not widely recognized in scientific literature.
Hypersensitive site
Hypersensitive site, a region of the chromosome that is more accessible to cleavage by DNase enzymes due to an open chromatin conformation, often associated with gene regulatory regions.
Hypervariable
Hypervariable, refers to regions in DNA or proteins that exhibit high genetic diversity within a population.

I[edit | edit source]

Identical Twins
Identical Twins, twins that are genetically identical because they were produced from the splitting of a single fertilized egg.
Imaging genetics
Imaging genetics, a field of study that combines genetic data with brain imaging in order to understand the relationship between genetic variation and brain structure and function.
Imitation SWI
Imitation SWI, a type of SWI/SNF chromatin remodeling complex, involved in the regulation of gene expression by altering chromatin structure.
In Situ Hybridization
In Situ Hybridization, a laboratory technique that uses a labeled complementary DNA or RNA strand to localize a specific DNA or RNA sequence in a portion or section of tissue.
Inherited
Inherited, passed down from parents to offspring through genes.
Insertion
Insertion, the addition of one or more nucleotide base pairs into a DNA sequence.
Insertional mutagenesis
Insertional mutagenesis, the alteration of a gene and its function through the integration of a foreign DNA sequence into the genome.
Integrative and conjugative element
Integrative and conjugative element, a type of mobile genetic element that can be integrated into the bacterial chromosome and can mediate horizontal gene transfer.
Integron
Integron, a genetic unit that can capture and express genes, typically those encoding antibiotic resistance.
Interleukin 17F
Interleukin 17F, a cytokine that plays a role in inflammation and is associated with the pathogenesis of various autoimmune diseases.
Interlocus contest evolution
Interlocus contest evolution, a theory in evolutionary biology that focuses on the interaction between genes at different loci competing for evolutionary success.
Introduction to genetics
Introduction to genetics, a foundational overview of the field of genetics and the study of heredity, genes, and genetic variation in living organisms.
Intron
Intron, a non-coding section of a gene that is transcribed into RNA but is removed during RNA processing and does not appear in the final mRNA.
Island Conservation
Island Conservation, an environmental organization focused on preventing extinctions by removing invasive species from islands.
Jan Klein
Jan Klein, a geneticist known for his work on the immune system and major histocompatibility complex (MHC).
Jena Declaration
Jena Declaration, a statement resulting from a 2019 conference at the University of Jena, reevaluating the concept of race in biological anthropology and urging to abandon it in human genetics.
Ka/Ks ratio
Ka/Ks ratio, a measure used in molecular evolution and comparative genomics to estimate the balance between neutral mutations, purifying selection, and advantageous mutations in a set of genes.

K[edit | edit source]

Karyotype
Karyotype, the number and visual appearance of the chromosomes in the cell nuclei of an organism or species.
Keratin-associated protein
Keratin-associated protein, a family of proteins that associate with keratin in hair and nails to give them strength and resistance.
Knockout
Knockout, a genetic technique in which an organism is engineered to carry a gene that has been made inoperative (a "knockout" gene).

L[edit | edit source]

LOD Score
LOD Score, a statistical estimate that suggests whether two genes are likely to lie near each other on a chromosome and are therefore likely to be inherited together.
LZTFL1
LZTFL1, a gene associated with the ciliopathy diseases and possibly involved in regulating cell signaling and differentiation.
Lake Toba genetic bottleneck
Lake Toba genetic bottleneck, a hypothesis that suggests a massive volcanic eruption roughly 70,000 years ago caused a severe reduction in the size of the human population, leading to a decrease in genetic diversity.
Linkage
Linkage, the tendency of alleles that are located close to each other on a chromosome to be inherited together during the meiosis phase of sexual reproduction.
Locus
Locus, the specific location of a gene or DNA sequence on a chromosome.
Locus (genetics)
Locus (genetics), a term used to describe the location of a specific gene or sequence on a chromosome within the genome.
Lymphocyte
Lymphocyte, a type of white blood cell that is part of the immune system; includes B cells, T cells, and natural killer cells.
Lyonization
Lyonization, the process by which one of the two X chromosomes is randomly inactivated in female mammals; also known as X-chromosome inactivation.
Lysosome
Lysosome, an organelle in the cytoplasm of eukaryotic cells containing degradative enzymes enclosed in a membrane.
MAP3K15
MAP3K15, a gene encoding a member of the MAP kinase kinase kinase family, which may play a role in cell signaling pathways.
MASS syndrome
MASS syndrome, a medical condition similar to Marfan syndrome, but not involving the heart.
Macrosatellite
Macrosatellite, a type of large tandem repeat DNA sequence found in eukaryotic genomes, often variable in length among individuals.
Magnetogenetics
Magnetogenetics, a technique for controlling the activity of neurons using magnetic fields.
Mapping
Mapping, in genetics, the process of determining the location of genes and the distances between them on the chromosomes.
Marker
Marker, a gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or species.
Marker-assisted selection
Marker-assisted selection, a process whereby a marker is used for indirect selection of a genetic determinant or determinants of a trait of interest.
Maternal effect
Maternal effect, the influence of the genotype or environment of the mother on the phenotype of her offspring, typically due to substances she provides to the oocytes or developing embryos.
Meiosis
Meiosis, a process of cell division that reduces the number of chromosomes by half and leads to the production of gametes.
Meiotic drive
Meiotic drive, a type of genetic bias that causes certain alleles to be passed on to offspring more frequently than would be expected under Mendelian inheritance patterns.
Memetics
Memetics, a theoretical approach to evolutionary models of cultural information transfer based on the concept of the meme.
Mendel, Johann (Gregor)
Mendel, Johann (Gregor), the founder of the modern science of genetics, known for his work on pea plants that led to the discovery of hereditary laws.
Mendelian Inheritance
Mendelian Inheritance, the manner by which genes and traits are passed from parents to their children, which can be predicted using Mendel's laws.
Mendelian error
Mendelian error, an error in a genetic study that occurs when the observed patterns of inheritance of a trait do not correspond to the expected patterns.
Messenger RNA (mRNA)
Messenger RNA (mRNA), a single-stranded RNA molecule that corresponds to the genetic sequence of a gene, and is read by a ribosome in the process of synthesizing a protein.
Metagenomics
Metagenomics, the study of genetic material recovered directly from environmental samples.
Metaphase
Metaphase, a stage of cell division where chromosomes align in the center of the cell before being separated into each of the two daughter cells.
Microarray Technology
Microarray Technology, a tool used to analyze gene expression and genetic variation within populations.
Microbiome
Microbiome, the collection of microorganisms, such as bacteria, fungi, and viruses, that live in a particular environment, including the human body.
Microsatellite
Microsatellite, a tract of repetitive DNA in which certain DNA motifs are repeated, typically 1-6 base pairs in length.
Midparent
Midparent, the average of the trait values of the two parents in genetics.
Minichromosome
Minichromosome, a small, artificially created chromosome used to transport genes for genetic engineering purposes.
Mirror tree
Mirror tree, a method used in computational biology to infer protein-protein interactions by comparing phylogenetic trees.
Missense Mutation
Missense Mutation, a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
Mitochondria
Mitochondria, membrane-bound cell organelles that generate most of the chemical energy needed to power the cell's biochemical reactions.
Mitochondrial DNA
Mitochondrial DNA, the small circular chromosome found inside mitochondria, passed from mother to offspring.
Mitosis
Mitosis, a process where a single cell divides into two identical daughter cells (cell division).
Mobilome
Mobilome, the total of all mobile genetic elements in a genome.
Modifications (genetics)
Modifications (genetics), changes to a genome or to the set of proteins expressed by a genome that affect an organism's phenotype.
Molecular cytogenetics
Molecular cytogenetics, the branch of cytogenetics that involves the analysis of the structure and function of the cell, particularly chromosomes, using molecular biology techniques.
Monosomy
Monosomy, the presence of only one chromosome from a pair in a cell's nucleus.
Morbid map
Morbid map, a map that shows the locations of genetic disease genes on human chromosomes.
Mosaic (genetics)
Mosaic (genetics), an individual who has cells with different genetic makeups.
Mouse Model
Mouse Model, a laboratory mouse used as a model to study human disease.
Multifactorial disease
Multifactorial disease, a disease caused by many factors, including genetic and environmental ones.
Museomics
Museomics, the use of genomic methods for studying specimens in museum collections.
Mutagen
Mutagen, an agent, such as radiation or a chemical substance, which causes genetic mutation.
Mutation
Mutation, the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations.
Mutation accumulation theory
Mutation accumulation theory, a theory that explains the existence of senescence in organisms by the accumulation of non-lethal heritable mutations.

N[edit | edit source]

NIPAL4
NIPAL4, a gene that encodes a magnesium transporter protein that has been associated with the skin condition atopic dermatitis.
Nagoya Protocol
Nagoya Protocol, an international agreement which aims at sharing the benefits arising from the utilization of genetic resources in a fair and equitable way.
Nanotechnology
Nanotechnology, the manipulation of matter on an atomic, molecular, and supramolecular scale.
Necrofauna
Necrofauna, a term referring to the suite of organisms that feed on dead and decaying bodies.
Neofunctionalization
Neofunctionalization, the process by which a gene acquires a new function after a gene duplication event.
Neurocriminology
Neurocriminology, the study of brain structures as they relate to behavior and criminal tendencies.
Neurogenetics
Neurogenetics, the study of the genetic basis of nervous system development and function.
Neurogenomics
Neurogenomics, the study of how the genome contributes to the development and function of the nervous system.
Neuronal lineage marker
Neuronal lineage marker, a gene or molecule used to identify the lineage or origin of specific neurons.
Neutral network (evolution)
Neutral network (evolution), a network of genes or genotypes that are all selectively equivalent.
Newborn Screening
Newborn Screening, the practice of testing newborn infants for diseases that have onset in infancy, allowing treatment to be started before symptoms or permanent damage occur.
Nic site
Nic site, a site on the DNA that is cleaved by the integrase protein during the integration of viral DNA into the host genome.
Nik operon
Nik operon, a set of genes that are co-regulated and encode proteins involved in nickel transport in bacteria.
NlaIII
NlaIII, a type of restriction enzyme that cuts DNA at specific recognition sites.
Non-Coding DNA
Non-Coding DNA, DNA sequences that do not contain instructions for making proteins.
Non-Directiveness
Non-Directiveness, a principle in genetic counseling where the counselor provides information and support to clients but does not steer them toward or away from particular decisions.
Non-allelic homologous recombination
Non-allelic homologous recombination, a process that can occur during meiosis where recombination happens between non-allelic similar sequences, leading to chromosomal rearrangements.
Nondisjunction
Nondisjunction, an error in meiosis or mitosis in which there is a failure of paired homologous chromosomes to separate.
Noninvasive genotyping
Noninvasive genotyping, a method for determining an organism's genotype using noninvasive samples such as hair, feces, or saliva.
Nonsense Mutation
Nonsense Mutation, a mutation in which a sense codon that corresponds to one of the twenty amino acids specified by the genetic code is changed to a chain-terminating codon, which signals the end of translation.
Normalized chromosome value
Normalized chromosome value, a measure used in cytogenetics to compare the relative lengths or other attributes of chromosomes.
Northern Blot
Northern Blot, a technique used in molecular biology research to study gene expression by detection of RNA (or isolated mRNA) in a sample.
Nuclear Membrane
Nuclear Membrane, a double lipid bilayer that encloses the genetic material in eukaryotic cells.
Nuclear sexing
Nuclear sexing, a method for determining the sex of an individual by examining the cells' nuclei.
Nuclease protection assay
Nuclease protection assay, a laboratory technique used to map RNA transcripts and study gene expression.
Nucleic Acid
Nucleic Acid, molecules that form the building blocks of DNA and RNA, essential for all known forms of life.
Nucleolus
Nucleolus, a non-membrane bound structure composed of proteins and nucleic acids found within the nucleus of eukaryotic cells.
Nucleomodulin
Nucleomodulin, a regulatory protein that modulates the structure of chromatin and thus affects gene expression.
Nucleopore
Nucleopore, an opening in the nuclear envelope of eukaryotic cells that allows the transport of materials between the nucleus and cytoplasm.
Nucleosome
Nucleosome, the basic unit of DNA packaging in eukaryotes, consisting of a segment of DNA wound around a core of histone proteins.
Nucleotide
Nucleotide, the basic building block of nucleic acids, such as DNA and RNA.
Nucleus
Nucleus, the membrane-bound structure in eukaryotic cells that contains the genetic material.

O[edit | edit source]

Ohno's law
Ohno's law, a principle of genetic evolution proposed by Susumu Ohno stating that the probability of gene duplication is equal over evolutionary time, leading to an increase in the number of genes in the genome.
Oncogene
Oncogene, a gene that has the potential to cause cancer. In tumor cells, they are often mutated or expressed at high levels.
Oogenesis
Oogenesis, the process of egg cell formation in females.
Open Reading Frame
Open Reading Frame, a continuous stretch of codons that contain a start codon (usually AUG) and a stop codon within the same reading frame.
Organ
Organ, a part of an organism that is typically self-contained and has a specific vital function.
Organelle
Organelle, specialized subunits within a cell that have a specific function and are usually separately enclosed within their own lipid bilayers.
Outline of genetics
Outline of genetics, a structured list of topics related to genetics, designed to serve as an organized guide to the subject.
PLAC1
PLAC1, a gene encoding a protein that may play a role in the growth and development of placental tissue.
PURA syndrome
PURA syndrome, a rare genetic disorder characterized by developmental delay, seizures, and other neurological problems.
Parasitic chromosome
Parasitic chromosome, a chromosome that is able to replicate in a host genome but does not carry any essential genetic information for the host.
Partial dominance hypothesis
Partial dominance hypothesis, the idea that heterozygotes exhibit a phenotype that is intermediate between the phenotypes of the two homozygotes.
Pathogenicity island
Pathogenicity island, a distinct class of genomic island acquired by microorganisms through horizontal gene transfer; they are often implicated in virulence.
Patome
Patome, a term that refers to the complete set of diseases or pathological conditions that can be linked to specific genetic variations.
Pedigree
Pedigree, a chart representing family relationships in a conventional tree structure to track genetic information over generations.
Penetrance
Penetrance, the proportion of individuals with a particular genetic variant that exhibit the phenotype associated with that variant.
Peptide
Peptide, a short chain of amino acids linked by peptide bonds.
Peptidoglycan recognition protein 3
Peptidoglycan recognition protein 3, a protein that binds peptidoglycans, which are components of bacterial cell walls, and plays a role in the immune response.
Peptidoglycan recognition protein 4
Peptidoglycan recognition protein 4, a protein that plays a role in the immune system's response to bacterial infection by binding peptidoglycan.
Personalized Medicine
Personalized Medicine, a medical model using characterization of individuals' phenotypes and genotypes (e.g., molecular profiling, medical imaging, and lifestyle data) to tailor the right therapeutic strategy for the right person at the right time, and to determine the predisposition to disease.
Pharmacogenomics
Pharmacogenomics, the study of how genes affect a person's response to drugs.
Phene
Phene, a term used to describe an individual observable characteristic or trait, such as morphology, development, or behavior.
Phenocopy
Phenocopy, an environmentally induced trait that occurs in an individual organism and resembles the phenotype of a known genetic mutation.
Phenotype
Phenotype, the set of observable characteristics or traits of an organism, including physical form and function, which result from the interaction between its genotype and the environment.
Phenotype modification
Phenotype modification, a change in an organism's phenotype as a result of environmental influences.
Phenotypic integration
Phenotypic integration, the interdependence of multiple traits that lead to complex phenotypes due to genetic and environmental factors.
Phenotypic plasticity
Phenotypic plasticity, the ability of an organism to change its phenotype in response to changes in the environment.
Phosphate Backbone
Phosphate Backbone, the structure that forms the backbone of DNA, consisting of alternating phosphate and sugar residues.
Phylostratum
Phylostratum, a term used to describe the evolutionary origin of a particular gene or a group of genes.
Physical Map
Physical Map, a representation of the physical distance between genetic elements or markers within a genome.
Plant genetic resources
Plant genetic resources, genetic material of plants which is of value as a resource for the present and future generations of people.
Plant–fungus horizontal gene transfer
Plant–fungus horizontal gene transfer, the movement of genetic material between a plant and a fungus that is not through vertical transmission (inheritance).
Plasma Membrane (Cell Membrane)
Plasma Membrane (Cell Membrane), the semipermeable membrane surrounding the cytoplasm of a cell, which regulates the passage of molecules in and out of the cell.
Plasmid
Plasmid, a small DNA molecule that is physically separate from chromosomal DNA and can replicate independently.
Point Mutation
Point Mutation, a genetic mutation where a single nucleotide base is changed, inserted, or deleted from a sequence of DNA or RNA.
Polar overdominance
Polar overdominance, a form of overdominance where the phenotype depends not only on the genotype but also on the direction of the cross.
Polydactyly
Polydactyly, the presence of extra fingers or toes at birth.
Polydactyly-myopia syndrome
Polydactyly-myopia syndrome, a rare genetic disorder that is characterized by the presence of extra fingers or toes and nearsightedness.
Polygenic Trait
Polygenic Trait, a trait that is controlled by a group of non-allelic genes (polygenes).
Polygenic adaptation
Polygenic adaptation, the process by which populations adapt to their environment using variations spread across multiple genes.
Polymerase Chain Reaction (PCR)
Polymerase Chain Reaction (PCR), a technique used in molecular biology to amplify a single copy or a few copies of a segment of DNA across several orders of magnitude.
Polymerase stuttering
Polymerase stuttering, a phenomenon in which a DNA polymerase slips backward by a few bases, re-synthesizes the same segment and causes replication errors.
Polymorphism
Polymorphism, the occurrence of two or more clearly different forms or alleles at a locus in a population's individuals.
Polyphenism
Polyphenism, the phenomenon where two or more distinct phenotypes are produced by the same genotype.
Polyploid complex
Polyploid complex, a group of species that contain individuals of various ploidy levels.
Population Genomics
Population Genomics, the study of the genomic variations within and between populations and the evolutionary forces that shape them.
Position-effect variegation
Position-effect variegation, the phenomenon in which the position of a gene in the chromosome influences its expression and can lead to variegated phenotypes.
Positional Cloning
Positional Cloning, a method of gene cloning that uses the position of a gene on a chromosome to isolate that gene.
Positional sequencing
Positional sequencing, a strategy for sequencing DNA where known sequences are used as reference points.
Primer
Primer, a short strand of RNA or DNA (generally about 18-22 bases) that serves as a starting point for DNA synthesis.
Primosome
Primosome, a protein complex responsible for creating RNA primers on single-stranded DNA during DNA replication.
Prion
Prion, an infectious agent composed of protein in a misfolded form.
Proband
Proband, the person serving as the starting point for the genetic study of a family (used in medicine and genetic studies).
Probe
Probe, a molecule that is labeled or tagged in some way so that it can be used to identify or isolate a gene, RNA, or protein.
Progeria
Progeria, a rare genetic disorder that causes a child's body to age fast.
Promoter
Promoter, a region of DNA that initiates transcription of a particular gene.
Pronucleus
Pronucleus, a haploid nucleus resulting from a sperm or egg cell fertilization before the fusion of the gametes.
Proofreading (biology)
Proofreading (biology), the error-correcting process during DNA replication.
Prophase
Prophase, the first stage of cell division, during which the chromosomes become visible as paired chromatids and the nuclear envelope disappears.
Prostate Cancer
Prostate Cancer, a common cancer in men where cancer cells grow in the prostate gland.
Protein
Protein, a molecule composed of polymers of amino acids joined together by peptide bonds.
Proton coupled amino acid transporter
Proton coupled amino acid transporter, a type of protein that facilitates the transport of amino acids across a cell membrane in conjunction with protons.
Pseudoalleles
Pseudoalleles, alleles that are actually different genes located very close together on the same chromosome and cannot be separated by recombination.
Pseudogene
Pseudogene, a segment of DNA that is a non-functioning copy of a gene.
Pseudolinkage
Pseudolinkage, the apparent linkage of two genes that are not actually on the same chromosome due to the interaction of their genetic pathways or physical proximity in the nucleus.
Q-system (genetics)
Q-system (genetics), a genetic system for controlling gene expression specifically in Drosophila.
RCCX
RCCX, a genetic module found in the human genome consisting of repeated sequences including genes for complement control proteins and steroid 21-hydroxylase.
RNA (Ribonucleic Acid)
RNA (Ribonucleic Acid), a nucleic acid present in all living cells. Its principal role is to act as a messenger carrying instructions from DNA for controlling the synthesis of proteins.
Race
Race, in biology, a distinct population within a species that is adapted to particular environmental conditions and can interbreed with other populations of the same species. In humans, race is a social concept without a rigorous scientific basis.
Radiation reduced hybrid
Radiation reduced hybrid, a hybrid organism that has been subjected to radiation to reduce its chromosome number, often used in genetic research.
Ras-interacting protein 1
Ras-interacting protein 1, a protein that interacts with members of the Ras superfamily of small GTPases, involved in signal transduction pathways.
Reading frame
Reading frame, one of three possible ways of reading a nucleotide sequence as a set of consecutive, non-overlapping codons in DNA or RNA.
Reassortment
Reassortment, the process by which influenza viruses swap gene segments when two different strains infect the same cell.
RecF pathway
RecF pathway, a pathway involved in the repair of DNA in bacteria.

R[edit | edit source]

S[edit | edit source]

T[edit | edit source]

U[edit | edit source]

V[edit | edit source]

  • Vacuole - Vacuole is a membrane-bound organelle in cells that can contain fluid, food, or waste products.
  • Variant (biology) - A Variant is a version of a gene that differs from other versions by one or several mutations.
  • Vector - Vector in molecular biology refers to a DNA molecule used as a vehicle to artificially carry foreign genetic material into another cell.
  • Virtual karyotype - A Virtual karyotype is a computational reconstruction of the chromosome complement of a cell based on high-throughput genomic data.
  • Virus - Viruses are small infectious agents that replicate only inside the living cells of an organism.

W-Z[edit | edit source]

  • Weismann barrier - The Weismann barrier is a principle that states that information cannot pass from somatic cells to germ cells and hence to the next generation.
  • Western Blot - Western Blot is an analytical technique used to detect specific proteins in a sample of tissue homogenate or extract.
  • X Chromosome - X Chromosome is one of the two sex chromosomes in many organisms, including humans, where it is present in two copies in females and one in males.
  • X hyperactivation - X hyperactivation is the overexpression of genes on the X chromosome, which can occur in diseases like Klinefelter syndrome.
  • X-Linked - X-Linked refers to the inheritance patterns of genes that are located on the X chromosome.
  • X-inactivation - X-inactivation is a process by which one of the copies of the X chromosome present in female mammals is inactivated.
  • X-linked recessive inheritance - X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation.
  • X:A ratio - The X:A ratio is a genetic mechanism that determines the sex in some species, based on the proportion of X chromosomes to autosomes.
  • Y Chromosome - Y Chromosome is one of the sex chromosomes in many species, including humans, that is involved in sex determination.
  • Y linkage - Y linkage refers to the inheritance of genes that are located on the Y chromosome.
  • Yeast Artificial Chromosome (YAC) - Yeast Artificial Chromosome (YAC)s are genetically engineered chromosomes derived from the DNA of the yeast, Saccharomyces cerevisiae, which is used to clone DNA sequences in yeast cells.
  • ZNF337 - ZNF337 is a human gene that encodes a protein believed to be involved in transcriptional regulation.
  • Zebrafish - Zebrafish is a small freshwater fish that is widely used as a model organism in scientific research, particularly in developmental biology and genetics.

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