Chromosome 20 (human)

Human chromosome 20 idiogram

Chromosome 20 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 20

Chromosome 20 consists of 62.4 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 20 contains about 2% 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 600 and 800 genes on chromosome 20. So far, 603 of them are known.

Known genes on chromosome 20

Chromosome 20 contains the following genes, among others:

• ADA : adenosine deaminase
• CST3 : cystatin C
• GSS : glutathione synthase
• GHRH : somatoliberin
• PTPN1 : Protein Tyrosine Phosphatase (N1)

Medical importance

The 46 human chromosomes.

The genes on chromosome 20 have been linked to the following genetic diseases or symptoms . These are among others:

• Alagille Syndrome
• Alzheimer's disease
• Atopic eczema
• Benign familial epilepsy
• Brachydactyly type C
• Creutzfeldt-Jakob disease
• Gerstmann-Sträussler-Scheinker syndrome
• Type 2 diabetes
• HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinopathia pigmentosa)
• Laurence-Moon-Biedl-Bardet syndrome 6
• Hirschsprung's disease
• Kallmann syndrome type 3
• Kindler Syndrome
• McKusick-Kaufman syndrome
• MODY type 1
• Neurodegeneration with iron deposition in the brain
• Okihiro syndrome
• Transmissible spongiform encephalopathy
• Waardenburg syndrome type IV
• Celiac disease

literature

• P. Deloukas et al: The DNA sequence and comparative analysis of human chromosome 20. In: Nature . Number 414, 2001, pp. 865-671, PMID 11780052 .
• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. In: Genet Test. Number 1, 1997-1998, pp. 225-229, PMID 10464650 .

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 20 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 20 , accessed March 20, 2008
3. ^ Pauline W. Wang, James D. Eisenbart, Rafael Espinosa and others. a .: Refinement of the Smallest Commonly Deleted Segment of Chromosome 20 in Malignant Myeloid Diseases and Development of a PAC-Based Physical and Transcription Map. In: Genomics. Volume 67, Number 1, July 1, 2000, pp. 28-39.
4. ↑ Genetics Home Reference, Conditions related to genes on chromosome 20. , As of February 29, 2008

Web links

• Ensembl - Chromosome 20 (English)
• Genetics Home Reference - chromosome 20 (English)
• The genetic map of chromosome 20 (English)
• The gene map of chromosome 20 with the associated diseases or syndromes (English)