Chromosome 7
Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs (the building blocks of DNA) and represents between 5 and 5.5 percent of the total DNA in cells.
Genetic Features[edit | edit source]
Chromosome 7 contains more than 1,000 genes, which are responsible for various bodily functions and characteristics. Among these genes, some notable ones include the CFTR gene, which, when mutated, causes cystic fibrosis; the PAX4 gene, involved in pancreas development and linked to diabetes mellitus; and the EGFR gene, which codes for a protein involved in cell growth and division and has been studied for its role in cancer.
Associated Conditions[edit | edit source]
Several medical conditions are associated with mutations in genes located on chromosome 7. These include, but are not limited to:
- Cystic fibrosis: Caused by mutations in the CFTR gene, leading to the production of thick, sticky mucus that can clog the lungs and obstruct the pancreas. - Williams syndrome: A developmental disorder that affects many parts of the body, caused by a deletion of about 26 genes from chromosome 7. - Charcot-Marie-Tooth disease type 2B: A neurological disorder affecting the peripheral nerves, linked to mutations in the RAB7A gene on chromosome 7. - Pendred syndrome: A genetic disorder leading to hearing loss and the growth of goiters, associated with mutations in the SLC26A4 gene.
Research and Implications[edit | edit source]
Research on chromosome 7 continues to uncover the roles of its genes in health and disease. Understanding these genes and their functions can lead to improved diagnostics, treatments, and potentially cures for the conditions associated with them. For example, the study of the EGFR gene has led to the development of targeted therapies for certain types of cancer.
See Also[edit | edit source]
- Genetics - Human genome - Genetic disorder
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Contributors: Prab R. Tumpati, MD
