Chromosome 13 (human)

Human chromosome 13 idiogram

Scheme of an acrocentric and a metacentric metaphase chromosome

Chromosome 13 is one of 23 chromosomes pairs of people . A normal person has two largely identical copies of this chromosome in most of his cells . Chromosome 13 is an acrocentric chromosome , which means it has a terminal centromere . It is the largest acrocentric chromosome in humans. At 6.5 genes per 1 million base pairs, it has the lowest gene density of any human chromosome.

Decoding the chromosome 13

Chromosome 13 consists of 114 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 13 contains about 3.5 to 4% of the total DNA of a human cell . Identifying the genes on this chromosome is part of an ongoing process of deciphering the human genome. There are between 300 and 700 genes on chromosome 13. So far, 356 of them are known.

Known genes on chromosome 13

Chromosome 13 contains the following genes, among others:

• BRCA2
• Factor VII
• Factor X : thrombokinase

Medical importance

The 46 human chromosomes.

The genes on chromosome 13 have been linked to the following genetic diseases or symptoms . These are among others:

• Breast cancer
• Keratitis-Ichthyosis-Numbness Syndrome
• MODY type 3
• Wilson disease
• Pancreatic agenesis
• Patau syndrome (trisomy 13)
• Retinoblastoma
• Tourette syndrome
• Troyer syndrome
• Waardenburg syndrome

Individual evidence

1. ^ A. Dunham et al: The DNA sequence and analysis of human chromosome 13. In: Nature , 428/2004, pp. 522-8. PMID 15057823
2. ↑ Genetics Home Reference, Chromosome 13 , as of February 29, 2008
3. ↑ ensembl.org, Chromosome 13 , accessed March 16, 2008
4. ↑ Genetics Home Reference, Conditions related to genes on chromosome 13. , As of February 29, 2008
5. ↑ Chromosome 13 (human).  In: Online Mendelian Inheritance in Man . (English).

literature

• O. Baud et al .: Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. In: Clin Genet. 55/1999, pp. 478-82. PMID 10450867
• F Gilbert: Chromosome 13. In: Genet Test , 4/2000, pp. 85-94. PMID 10794368
• T Kiveläm et al .: Retinoblastoma associated with chromosomal 13q14 deletion mosaicism. In: Ophthalmology , 110/2003, pp. 1983-8. PMID 14522775

Web links

• Ensembl - Chromosome 13 (English)
• Genetics Home Reference - chromosome 13 (English)
• The genetic map of chromosome 13 (English)
• The gene map of chromosome 13 with the associated diseases or syndromes (English)