Chromosome 13

Chromosome 13 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 material of DNA) and represents between 3.5 and 4% of the total DNA in cells.

Structure

Chromosome 13 is characterized by its large size and its acrocentric structure, meaning that the centromere is located near one end, creating a short (p) arm and a long (q) arm. The p arm is so short that it is often difficult to observe, but it contains a few genes.

Genes

Chromosome 13 contains about 300 to 400 genes. These genes are involved in a variety of functions in the body. Some of the notable genes on chromosome 13 include BRCA2, which is associated with breast cancer, and RB1, which is associated with retinoblastoma, a type of eye cancer.

Diseases and disorders

Alterations or mutations in the genes located on chromosome 13 can lead to various genetic disorders and diseases. For example, mutations in the BRCA2 gene can increase the risk of developing breast and ovarian cancer. Mutations in the RB1 gene can lead to retinoblastoma.

In addition, certain conditions are caused by changes in the structure or number of copies of chromosome 13. These include Trisomy 13, also known as Patau syndrome, which is caused by having an extra copy of chromosome 13.

Research

Research is ongoing to identify additional genes on chromosome 13 and to learn more about the role these genes play in health and disease. This research will lead to a better understanding of the genetic basis of many conditions and may eventually lead to new treatments and prevention strategies.

See also

• Human genome
• Genetic disorder
• Gene therapy