Search for DNA sequence variations using a MutS-based technology

被引：6

作者：

Bellanne-Chantelot, C ^{[1
]}

Beaufils, S ^{[1
]}

Hourdel, V ^{[1
]}

Lesage, S ^{[1
]}

Morel, V ^{[1
]}

Dessinais, N ^{[1
]}

Le Gall, I ^{[1
]}

Cohen, D ^{[1
]}

Dausset, J ^{[1
]}

机构：

[1] Ctr Etud Polymorphisme Humain, Fdn Jean Dausset, F-75010 Paris, France

来源：

MUTATION RESEARCH-GENOMICS | 1997年 / 382卷 / 1-2期

关键词：

point mutation; mutation detection; mismatch-binding; MutS; chromosome; 21;

D O I：

10.1016/S1383-5726(97)00007-1

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The search for DNA sequence variations (DSV) is emphasized with genetic studies of a large number of multifactorial diseases. Saturation of regions of interest with diallelic polymorphisms will be an essential step to pinpoint, through association studies, predisposing genes. We have developed a solid-phase method based on the ability of mismatch binding protein MutS to recognize single nucleotide mismatches. This approach was applied to the study of 83 sequence-tagged sites (STSs) extracted from an eight centimorgans (cM) chromosome 21 region. One-third of tested STSs were found to be polymorphic leading to a frequency of one DSV every 822 base pairs (bp). Sequencing of analyzed STSs showed the high reliability of the MutS-based technology for mismatches up to 2 bp in DNA fragments ranging in size from 200 bp to 1 kilobase (kb). The entire assay which is performed in a solid-phase format without the need of electrophoresis or sequencing, will provide an efficient tool for new polymorphism detection. (C) 1997 Elsevier Science B.V.

引用

页码：35 / 43

页数：9

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