STRUCTURE OF THE HUMAN MSH2 LOCUS AND ANALYSIS OF 2 MUIR-TORRE KINDREDS FOR MSH2 MUTATIONS
STRUCTURE OF THE HUMAN MSH2 LOCUS AND ANALYSIS OF 2 MUIR-TORRE KINDREDS FOR MSH2 MUTATIONS
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DOI：
10.1006/geno.1994.1661
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发表时间：
1994-12-01
期刊：
影响因子：
4.4
通讯作者：
BISHOP, DT
中科院分区：
文献类型：
--
作者：
KOLODNER, RD;HALL, NR;BISHOP, DT
遗传性非息肉病性结直肠癌(HNPCC)是一种主要的癌症易感性综合征，已知由编码DNA错配修复系统组成部分的hMSH2和hMLH1等基因突变引起。MSH2基因已被克隆，覆盖约73kb的基因组DNA，包含16个外显子。所有内含子-外显子连接的序列已经确定，并用于开发分析每个MSH2外显子的突变的方法。这些方法已经被用来分析两个具有Muir-Torre综合征特征的HNPCC大型家系，并证明癌症易感性是由于一个家庭的MSH2基因移码突变和另一个家庭的MSH2基因的无义突变所致。(C)1994年学术出版社。
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in genes such as hMSH2 and hMLH1, which encode components of a DNA mismatch repair system. The MSH2 genomic locus has been cloned and shown to cover similar to 73 kb of genomic DNA and to contain 16 exons. The sequence of all of the intron-exon junctions has been determined and used to develop methods for analyzing each MSH2 exon for mutations. These methods have been used to analyze two large HNPCC kindreds exhibiting features of the Muir-Torre syndrome and demonstrate that cancer susceptibility is due to the inheritance of a frameshift mutation in the MSH2 gene in one family and a nonsense mutation in the MSH2 gene in the other family. (C) 1994 Academic Press, Inc.