Methods of detection of single base substitutions in clinical genetic practice.

Molecular biology & medicine Pub Date : 1990-10-01
S Forrest, R G Cotton
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Abstract

The ability to diagnose human diseases at the DNA level has become possible because of a rapid development in DNA technology, particularly in the area of detection of single base substitutions. Mutations in the genomic DNA of a particular gene may be inferred indirectly using linkage analysis and restriction fragment length polymorphisms. However, direct detection of the mutation is the more favourable approach. The advent of the polymerase chain reaction to amplify specific regions of genomic DNA or mRNA has enhanced the speed and sensitivity of many of the screening and diagnostic procedures. Screening methods have been developed that will detect at least 70% and, with some methods, close to 100% of all mutations. The methods include ribonuclease A cleavage, denaturing gradient gel electrophoresis, chemical cleavage of mismatch and direct sequencing. Choice of method is based on a number of factors and will depend on the structure of the gene to be analysed. Following identification of a mutation using one of the screening procedures, prenatal diagnosis and carrier testing can be offered. The overall aim is to develop a method that has the potential to determine the mutation present in an index case of a previously untested family in a few days, thus allowing any other relevant family member to be tested.

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临床遗传学实践中单碱基置换的检测方法。
由于DNA技术的迅速发展,特别是在检测单碱基取代的领域,在DNA水平上诊断人类疾病的能力已经成为可能。特定基因的基因组DNA突变可以通过连锁分析和限制性片段长度多态性间接推断。然而,直接检测突变是更有利的方法。扩增基因组DNA或mRNA特定区域的聚合酶链反应的出现,提高了许多筛查和诊断程序的速度和灵敏度。已经开发出的筛查方法可以检测到至少70%的突变,有些方法甚至可以检测到接近100%的突变。方法包括核糖核酸酶A裂解法、变性梯度凝胶电泳法、错配化学裂解法和直接测序法。方法的选择基于许多因素,并将取决于要分析的基因的结构。在使用筛查程序之一确定突变后,可以提供产前诊断和携带者检测。总体目标是开发一种方法,有可能在几天内确定以前未检测的家庭的索引病例中存在的突变,从而允许对任何其他相关家庭成员进行检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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