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 material of DNA) and represents approximately 3% of the total DNA in cells.

Genetics

Chromosome 16 is known to contain about 900 genes. Some of the genes on this chromosome are involved in diseases such as polycystic kidney disease, alpha thalassemia, and breast cancer.

Polycystic Kidney Disease

The PKD1 gene, located on chromosome 16, is responsible for autosomal dominant polycystic kidney disease. Mutations in this gene lead to the development of numerous cysts in the kidneys, and can also cause liver and pancreatic cysts.

Alpha Thalassemia

The HBA1 and HBA2 genes, also located on chromosome 16, are associated with alpha thalassemia. Mutations in these genes reduce the production of alpha globin, a component of hemoglobin, leading to a shortage of red blood cells, a condition known as anemia.

Breast Cancer

The BRCA2 gene, located on chromosome 16, is associated with an increased risk of breast cancer. Mutations in this gene can lead to the development of breast cancer, particularly in women.

Genomic Variation

Chromosome 16 has numerous regions of genomic variation. These variations can affect the function of genes and the development of diseases. For example, a deletion in the region 16p11.2 is associated with autism and schizophrenia.

See Also

• Human genome
• Genetic disorder
• Gene therapy

References

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