Chromosome 13 (human)

Chromosome 13 (human) is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building blocks of DNA) and represents between 3.5 and 4% of the total DNA in cells.

Characteristics

Chromosome 13 contains 300 to 400 distinct genes, but the exact number is still subject to research. These genes are involved in a variety of critical biological processes, including the development of the body's organs and tissues. One of the most notable genes on chromosome 13 is the BRCA2 gene, which is linked to a higher risk of developing breast and ovarian cancer. Another important gene, RB1, is associated with retinoblastoma, a rare form of eye cancer that predominantly affects young children.

Genetic Disorders

Several genetic disorders are associated with mutations in genes located on chromosome 13. These include:

- Patau Syndrome: Also known as Trisomy 13, this condition is caused by an individual having three copies of chromosome 13 instead of the usual two. It leads to severe intellectual disability and physical abnormalities in many parts of the body. Most infants with Patau syndrome do not survive past their first year of life. - Retinoblastoma: This cancer, which primarily affects the retina of the eye in children, is linked to mutations in the RB1 gene. - Breast cancer and ovarian cancer: Mutations in the BRCA2 gene increase the risk of developing these cancers.

Research

Research on chromosome 13 continues to uncover its complexities and the roles its genes play in health and disease. Scientists are exploring the connections between chromosome 13's genetic variations and disease risk, with the hope of developing better diagnostic tools and treatments.

See Also

• Genetics
• Human genome
• Chromosomal abnormalities