MUTATION ANALYSIS OF GENETIC-DISEASES BY ASYMMETRIC-PCR SSCP AND ETHIDIUM-BROMIDE STAINING - APPLICATION TO NEUROFIBROMATOSIS AND CYSTIC-FIBROSIS

被引：15

作者：

LAZARO, C

ESTIVILL, X

机构：

[1] Molecular Genetics Department, I.R.O., Hospital Duran i Reynals, Campus Bellvitge, Ctra. de Castelldefels, Km 2.7 08907 Hospitalet de Llobregat, Barcelona, Catalonia

来源：

MOLECULAR AND CELLULAR PROBES | 1992年 / 6卷 / 05期

关键词：

SSCP; CYSTIC FIBROSIS; NEUROFIBROMATOSIS TYPE-1; MUTATION ANALYSIS;

D O I：

10.1016/0890-8508(92)90027-U

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

The Single Strand Conformation Polymorphism (SSCP) technique is widely used in mutation analysis. We have introduced several modifications to the SSCP method, which overcome the problem of incomplete denaturation or reannealing of DNA during electrophoresis. The modifications consist of asymmetrical PCR amplification of the sequence of interest, electrophoresis with a higher concentration of acrylamide, and the analysis of the DNA fragments under u.v. light. We have applied this method to the analysis of two specific diseases: neurofibromatosis type 1 (NF1) and cystic fibrosis (CF) from PCR amplified exons. Two single nucleotide changes were observed with this method. © 1992.

引用

页码：357 / 359

页数：3

共 6 条

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