Chromosome 12 (human)

Human chromosome 12 idiogram

Chromosome 12 is one of 23 chromosomes pairs of people . A normal person has two largely identical copies of this chromosome in most of his cells .

Decoding the chromosome 12

Chromosome 12 consists of 132 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 12 contains about 4 to 4.5% 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 1000 and 1400 genes on chromosome 12. So far, 1069 of them are known.

Known genes on chromosome 12

Chromosome 12 contains the following genes, among others:

• IAPP : islet amyloid polypeptide
• ALK-1 : activin receptor-like kinase 1
• LRRK2 : Dardarin
• GAPDH : glyceraldehyde-3-phosphate dehydrogenase
• VWF : Von Willebrand factor
• Insulin-like growth factors (IGF): gene for insulin-like growth factor 1 (IGF 1)

Medical importance

The 46 human chromosomes.

The genes on chromosome 12 have been linked to the following genetic diseases or symptoms . These are among others:

• Hyper-IgD syndrome
• Holt-Oram Syndrome
• LEOPARD syndrome
• Tarui disease
• Osler's disease
• Noonan's Syndrome
• Pallister-Killian Syndrome
• Phenylketonuria
• Stickler syndrome
• Trisomy 12
• Triosephosphate isomerase deficiency
• Vitamin D-dependent rickets type 2

literature

• SE Scherer u. a .: The finished DNA sequence of human chromosome 12. In: Nature 440/2006, pp. 346-51. PMID 16541075
• F. Gilbert, N. Knauff: Disease genes and chromosomes: disease maps of the human genome. Chromosome 12. In: Genet Test , 4/2000, pp. 319-33. PMID 11142767
• KT Montgomery et al. a .: A high-resolution map of human chromosome 12. In: Nature , 409/2001, pp. 945-6. PMID 11237017

Web links

• Ensembl - Chromosome 12 (English)
• Genetics Home Reference - chromosome 12 (English)
• The "gene map" of chromosome 12 (English)

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 12 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 12 , accessed March 16, 2008
3. ↑ Jane E. Brissenden, Axel Ullrich † & Uta Francke, Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor, Nature 310, 781 - 784 (August 30, 1984)
4. ↑ Genetics Home Reference, Conditions related to genes on chromosome 12. , As of February 29, 2008
5. ↑ Nguyen NQ: Hereditary hemorrhagic telangiectasia . Dermatol Online J. 2005 Dec 30; 11 (4): 19. PMID 16403391