先天性畸形的基因图谱。
A gene map of congenital malformations.
作者信息
Wilkie A O, Amberger J S, McKusick V A
机构信息
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
出版信息
J Med Genet. 1994 Jul;31(7):507-17. doi: 10.1136/jmg.31.7.507.
Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.
先天性畸形常常是散发性出现的，这使得很难确定其病因是否具有遗传性，更不用说涉及哪些基因了。然而，近年来在特定畸形的基因突变定位和鉴定方面取得了迅速进展。本综述参考了《人类孟德尔遗传》（约翰·霍普金斯大学出版社，第11版，1994年）及其在线版本（OMIM），对与先天性畸形相关的139个基因座（包括65个已明确鉴定的基因）进行了编目。文中讨论了一些近期最有趣的进展。
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