The utility of single-strand conformation polymorphism (SSCP) analysis: Results obtained in families with Fabry's disease

被引：8

作者：

Madsen, KM ^{[1
]}

Hasholt, L ^{[1
]}

Sorensen, SA ^{[1
]}

vanLoo, A ^{[1
]}

Vanholder, R ^{[1
]}

机构：

[1] STATE UNIV GHENT HOSP,DEPT NEPHROL,GHENT,BELGIUM

来源：

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION | 1996年 / 56卷 / 02期

关键词：

alpha-galactosidase; mutation screening;

D O I：

10.3109/00365519609088605

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Single-strand conformation polymorphism (SSCP) analysis is a widely used and relatively simple method for detection of sequence polymorphisms in DNA fragments. We have used this technique to screen the alpha-galactosidase gene, with the aim of identifying the disease causing mutations in families with Fabry's disease. Five single-base shift mutations were found, but a single base-pair deletion could not be recognized by SSCP. The risk of mistaking a neutral polymorphism for a mutation is illustrated, and the utility as well as the limitations of SSCP in screening and diagnostic use are discussed.

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收藏

页码：177 / 182

页数：6

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