PCR-mediated detection of a polymorphism in the ATM gene

被引：13

作者：

Maillet, P ^{[1
]}

Vaudan, G ^{[1
]}

Chappuis, P ^{[1
]}

Sappino, AP ^{[1
]}

机构：

[1] Univ Geneva, Hop Cantonal, Div Oncol, Dept Med,Unite Identificat Predisposit Genet Can, CH-1211 Geneva 14, Switzerland

来源：

MOLECULAR AND CELLULAR PROBES | 1999年 / 13卷 / 01期

关键词：

ATM gene; ataxia-telangiectasia; polymorphism;

D O I：

10.1006/mcpr.1998.0219

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

In this report, the frequency of the G-->A transition polymorphism at nucleotide 5557 in exon 39 of the coding sequence of the gene mutated in ataxia-telangiectasia (ATM) was analysed. The frequency of the A and G alleles was estimated in the general population at 0.15 and 0.85, respectively. This polymorphism can be identified by single-strand conformation polymorphism (SSCP) and by a simple and rapid Ddel digestion after polymerase chain reaction (PCR)-mediated site directed mutagenesis (PSDM). (C) 1999 Academic Press.

引用

页码：67 / 69

页数：3

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