聚合酶链反应介导的ATM基因多态性检测

PCR-mediated detection of a polymorphism in the ATM gene.

作者信息

Maillet P, Vaudan G, Chappuis P, Sappino A

机构信息

Département de Médecine, Division d>>Oncologie, Hôpital Cantonal Universitaire de Genève, 24 rue Micheli-du-Crest, Genève 14, 1211, Switzerland.

出版信息

Mol Cell Probes. 1999 Feb;13(1):67-9. doi: 10.1006/mcpr.1998.0219.

DOI:10.1006/mcpr.1998.0219

PMID:10024435

Abstract

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 Dde I digestion after polymerase chain reaction (PCR)-mediated site directed mutagenesis (PSDM).

摘要

在本报告中，分析了共济失调毛细血管扩张症（ATM）相关基因突变的编码序列第39外显子中核苷酸5557处G→A转换多态性的频率。在普通人群中，A和G等位基因的频率估计分别为0.15和0.85。这种多态性可以通过单链构象多态性（SSCP）以及聚合酶链反应（PCR）介导的定点诱变（PSDM）后简单快速的Dde I酶切来鉴定。