Chromosome 8 (human)
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Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 155 million base pairs (the building material of DNA) and represents between 4.5 and 5 % of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 8 likely contains between 700 and 1,000 genes.
Genes
The following are some of the genes located on chromosome 8:
- FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
- GDAP1: ganglioside-induced differentiation-associated protein 1
- LPL: lipoprotein lipase
- MCPH1: microcephaly, primary autosomal recessive 1
- NDRG1: N-myc downstream regulated gene 1
- NEF3: neurofilament 3 (150kDa medium)
- NEFL: neurofilament, light polypeptide 68kDa
- SNAI2: snail homolog 2 (Drosophila)
- TG: thyroglobulin
- TPA: tissue plasminogen activator
- WRN: Werner Syndrome
Diseases & disorders
The following diseases are some of those related to genes on chromosome 8:
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 2
- Charcot-Marie-Tooth disease, type 4
- congenital hypothyroidism
- familial lipoprotein lipase deficiency
- Primary microcephaly
- Hereditary Multiple Exostoses
- Pfeiffer syndrome
- Rothmund-Thomson syndrome, or poikiloderma congenitale
- Waardenburg syndrome
- Werner syndrome
References
- Gilbert F (2001). "Chromosome 8". Genet Test 5 (4): 345-54. PMID 11960583.
- Nusbaum C et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature 439 (7074): 331-5. PMID 16421571.
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it:Cromosoma 8 (umano) no:Kromosom 8sr:Хромозом 8 (човек)
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
