Chromosome 16

Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pairs (the building blocks of DNA) and represents approximately 3% of the total DNA in cells.

Structure

Chromosome 16 is classified as a metacentric chromosome, meaning its centromere is positioned near the center, making the arms of the chromosome of roughly equal length. The precise number of genes varies, but it is estimated that it contains around 900 genes that are responsible for various genetic functions and traits.

Genetic and medical significance

Chromosome 16 is known to contain genes that are involved in several medical conditions and traits. Some of the notable genes include:

• ABCC6 - associated with pseudoxanthoma elasticum, a disorder affecting the elastic fibers of the skin, eyes, and cardiovascular system.
• HBA1 and HBA2 - these genes code for the alpha globin component of hemoglobin. Mutations in these genes can lead to conditions such as alpha-thalassemia.
• PKD1 - mutations in this gene can lead to polycystic kidney disease, a condition characterized by the growth of numerous cysts in the kidneys.

Chromosome 16 also has regions associated with diabetes mellitus type 2, certain forms of cancer, and Crohn's disease, among other conditions.

Research

Research on chromosome 16 has been extensive, particularly in the areas of diabetes and cancer. Studies have focused on understanding the genetic basis of these diseases and developing potential genetic therapies.

See also

• Genetics
• Human genome
• Chromosomal abnormalities