List of Chromosome Abnormalities for Human Chromosome 2

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In part one of this multi-part series, we discovered some of the genes on chromosome 1 and found out about some of the diseases associated with those genes. In part two, we’ll explore chromosome 2 and find out what medical information can be gleaned from studying this human chromosome.

Chromosome 2 Basic Characteristics

Chromosome 2 is the second largest chromosome in the human body. It contains more than 237 million base pairs, which make up strands of DNA. Chromosome research is a constantly evolving field, so the number of genes estimated to be on chromosome 2 varies from one source to another. Reliable sources indicate that chromosome 2 likely has nearly 1,500 genes. Chromosome 2 is often used to strengthen the argument for evolution, since this chromosome appears to be the fusion of two chromosomes from apes. Modern apes have nearly identical DNA sequences to the ones found in chromosome 2.

Chromosome 2 Genes

There are many genes located on chromosome 2, which can help to determine if a person will develop a medical condition or have difficulty with some aspect of their health and development. Several genes relating to collagen development, COL3A1, COL4A3, COL4A4, and COL5A2, are present on chromosome 2. Paired box gene 3 and paired boxed gene 8 are also present on chromosome 2. Paired box gene 3 is related to Waardenburg syndrome.

List of Chromosome Abnormalities for Chromosome 2

The genes contained on chromosome 2 are related to diseases that may develop in a person containing specific genetic mutations. The presence of a mutation is not a sure indicator that the disease will develop, but those who have identified such mutations should receive genetic counseling to determine what their options are for preventing the development of a medical condition or disease. Some of the diseases on the list of chromosome abnormalities for chromsome 2 include amyotrophic lateral sclerosis, mitochondrial trifunctional protein deficiency, primary hyperoxaluria, and primary pulmonary hypertension.

Chromosome 2 Reference Materials

National Library of Medicine. Genetics Home Reference. “Chromosome 2.” Retrieved December 4, 2008 from National Library of Medicine Genetics Home Reference.

U.S. Department of Energy Office of Science. Human Chromosome Launchpad. “Human Chromosome 2.” Retrieved December 4, 2008 from U.S. Department of Energy Office of Science.