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22號染色體

22號染色體
22號染色體
物種 Homo sapiens
基因數量 500-800

人類的22號染色體是23對染色體的其中之一,人體細胞在正常狀況下擁有一對。此染色體是第二小的人類染色體,擁有大約4900萬個鹼基對,佔細胞中DNA數量的1.5%到2%。

22號染色體是在1999年宣布定序完成,為人類基因組計畫中第一條完全定序的染色體。根據估計,此染色體大約含有500到800個基因。

基因

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以下是一部分屬於22號染色體的基因

基因座 基因 描述 相關症狀
22q11.21 TBX1英语TBX1 T-box 1
22q11.21-q11.23 COMT 兒茶酚-O-甲基轉移酶 基因
22q12.1-q13.1 NEFH英语NEFH neurofilament, heavy polypeptide 200kDa
22q12.1 CHEK2英语CHEK2 CHK2 checkpoint homolog (S. pombe)
22q12.2 NF2英语NF2 neurofibromin 2 双侧听神经瘤
22q13 SOX10英语SOX10 SRY (sex determining region Y)-box 10
22q13.2 EP300英语EP300 E1A binding protein p300
22q13.3 WNT7B英语WNT7B Wingless-type MMTV integration site family, member 7B
22q13.3 SHANK3英语SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13缺失综合征

相关疾病

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下列疾病和22号染色体上的基因有关:

参考文献

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  • Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP. The DNA sequence of human chromosome 22. Nature. 1999, 402 (6761): 489–95. PMID 10591208. 
  • Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 22. Genet Test. 1998, 2 (1): 89–97. PMID 10464604. 
  • Kurzrock R, Kantarjian HM, Druker BJ, Talpaz M. Philadelphia chromosome-positive leukemias: from basic mechanisms to molecular therapeutics. Ann Intern Med. 2003, 138 (10): 819–30. PMID 12755554. 
  • Maynard TM, Haskell GT, Lieberman JA, LaMantia AS. 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int J Dev Neurosci. 2002, 20 (3-5): 407–19. PMID 12175881. 
  • McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J Hum Genet. 2002, 70 (5): 1077–88. PMID 11925570. 
  • McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns. 1999, 10 (1): 11–24. PMID 10191425. 
  • Rinn JL, Euskirchen G, Bertone P, Martone R, Luscombe NM, Hartman S, Harrison PM, Nelson FK, Miller P, Gerstein M, Weissman S, Snyder M. The transcriptional activity of human Chromosome 22. Genes Dev. 2003, 17 (4): 529–40. PMID 12600945. 
  • Wilson HL, Wong ACC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE (2003) Molecular characerisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSASP2 in the major neurological symptoms. J Med Genet 40:575-584. PMID 12920066
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22號染色體
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