基因

以下是一部分属于22号染色体的基因

相关疾病

下列疾病和22号染色体上的基因有关：

肌肉萎缩性侧索硬化症

乳癌

22q11.2缺失综合征（22q11.2 deletion syndrome）

22q13缺失综合征（22q13 deletion syndrome）

李-佛美尼综合征

神经纤维瘤病Ⅱ型（Neurofibromatosis type 2）

鲁宾斯坦-泰比综合征（Rubinstein-Taybi syndrome）

瓦登伯革氏综合征（Waardenburg syndrome）

高铁血红蛋白症

参考文献

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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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