Genetic disease

Genetic Defect

A genetic defect, also known as a genetic disorder, is a disease that is caused by an abnormality in an individual's DNA. These abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.

Causes

Genetic defects can be caused by one or more genetic mutations. A mutation is a change in the DNA sequence that makes up a gene. Mutations can occur in two ways: they can be inherited from a parent or acquired during a person's lifetime.

Types of Genetic Defects

There are several types of genetic defects, including single-gene defects, chromosomal defects, and complex disorders.

Single-Gene Defects

Single-gene defects are caused by mutations in the DNA sequence of one gene. Examples of single-gene disorders include cystic fibrosis, sickle cell anemia, and Huntington's disease.

Chromosomal Defects

Chromosomal defects involve changes to the number or structure of the chromosomes. Examples include Down syndrome, which is caused by an extra copy of chromosome 21, and Turner syndrome, which occurs when a female is born with only one X chromosome.

Complex Disorders

Complex disorders are caused by a combination of genetic factors and environmental factors. Examples include heart disease, diabetes, and cancer.

Diagnosis and Treatment

Diagnosis of a genetic defect often involves genetic testing. This can include blood tests, DNA tests, and other types of tests. Treatment can vary widely depending on the specific defect and its severity. It can include medical treatments, surgical interventions, physical therapy, and genetic counseling.

See Also

• Genetics
• Mutation
• Chromosome
• Genetic testing

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