2號染色體 (人類)

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2號染色體
物種	Homo sapiens
基因數量	1888

2號染色體是人類的23對染色體之一。在正常的人類體細胞中，會有1對2號染色體。這條染色體是人類所擁有的第二大染色體，擁有2.37億個鹼基對，其佔有的DNA大小，大約是細胞中DNA總數的8%。

2號染色體所擁有的基因數目並不確定，目前遺傳學研究估計大約有1888個基因^[1]。重要的發育調控基因之一HOXD homeobox基因叢集（gene cluster）位在這條染色體上。

目录 1 演化 2 基因 3 相關疾病與癥候 4 參見 5 參考文獻

[编辑] 演化

2號染色體可能是源自兩個染色體的融合，證據是這條染色體與猿類的兩條染色體吻合，以及退化的著絲粒（centromere）與端粒（telomere）^[2]。

[编辑] 基因

The following genes are located on chromosome 2:

• ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
• AGXT: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
• ALMS1: Alstrom syndrome 1
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
• COL3A1: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
• COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
• COL4A4: collagen, type IV, alpha 4
• COL5A2: collagen, type V, alpha 2
• HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
• HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
• MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MSH6: mutS homolog 6 (E. coli)
• NR4A2: nuclear receptor subfamily 4, group A, member 2
• OTOF: otoferlin
• PAX3: paired box gene 3 (Waardenburg syndrome 1)
• PAX8: paired box gene 8
• SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
• TPO: thyroid peroxidase

[编辑] 相關疾病與癥候

The following diseases are related to genes located on chromosome 2:

• Alport syndrome
• Alström syndrome
• Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis, type 2
• Congenital hypothyroidism
• Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, classical type
• Ehlers-Danlos syndrome, vascular type
• Harlequin ichthyosis
• Hemochromatosis
• Hemochromatosis, type 4
• Hereditary nonpolyposis colorectal cancer
• Infantile-onset ascending hereditary spastic paralysis
• Juvenile primary lateral sclerosis
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Maturity onset diabetes of the young type 6
• Mitochondrial trifunctional protein deficiency
• Nonsyndromic deafness
• Nonsyndromic deafness, autosomal recessive
• Primary hyperoxaluria
• Primary pulmonary hypertension
• Waardenburg syndrome

[编辑] 參見

• Genes of the Chromosome 2 fusion site

[编辑] 參考文獻

1. ↑ NCBI Map Viewer - 2號染色體
2. ↑ Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew, Accessed 18 May 2006

人類基因組

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