Chromosome 14 (human)

Human chromosome 14 idiogram

Chromosome 14 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 14 is an acrocentric chromosome , which means it has a terminal centromere .

Scheme of an acrocentric and a metacentric metaphase chromosome

Decoding the chromosome 14

Chromosome 14 consists of 106 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 14 contains about 3 to 3.5% 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 700 and 1300 genes on chromosome 14. So far, 662 of them are known.

Known genes on chromosome 14

Chromosome 14 contains the following genes, among others:

• PSEN1 : President 1
• Neuroglobin
• PKB : protein kinase B
• HIF : hypoxia-induced factor
• SRP 54 : Signal Recognition Particle 54  kDa

Medical importance

The 46 human chromosomes.

The genes on chromosome 14 are associated with the following genetic diseases or symptoms . These are among others:

• Alpha-1 antitrypsin deficiency
• Alzheimer's disease type 3
• Burkitt lymphoma
• Follicular lymphoma
• Machado Joseph Disease
• Hers disease
• Krabbe's disease
• Multiple myeloma
• Niemann-Pick disease
• Segawa syndrome
• Senile plaques
• Trisomy 14
• Walker-Warburg Syndrome
• Oculopharyngeal muscular dystrophy

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 14 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 14 , accessed March 18, 2008
3. ↑ Genetics Home Reference, Conditions related to genes on chromosome 14. , As of February 29, 2008
4. ↑ Mohammadi B, Bufler J, et al .: Oculopharyngeal Muscular Dystrophy - Genetic Diagnosis of a Family in Germany. Der Nervenarzt 12/71 (2000), pp 1003-6

literature

• R. Heilig u. a .: The DNA sequence and analysis of human chromosome 14. In: Nature , 421/2003, p. 6923, p. 601-7. PMID 12508121
• D. Kamnasaran D, DW Cox: Current status of human chromosome 14. In: J Med Genet , 39/2002, pp. 81-90. PMID 11836355
• EG Lemire, S. Cardwell: Unusual phenotype in partial trisomy 14. In: Am J Med Genet , 87/1999, pp. 294-6. PMID 10588832
• CD van Karnebeek u. a .: Further delineation of the chromosome 14q terminal deletion syndrome. In: Am J Med Genet , 110/2002, pp. 65-72. PMID 12116274
• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. Chromosome 14. In: Genet Test , 3/1999, pp. 379-91. PMID 10627948

Web links

• Ensembl - Chromosome 14 (English)
• Genetics Home Reference - chromosome 14 (English)
• The genetic map of chromosome 14 (English)
• The gene map of chromosome 14 with the associated diseases or syndromes (English)