Korf Bruce R
University of Alabama at Birmingham, Birmingham, Alabama, USA.
Curr Protoc Hum Genet. 2006 Feb;Chapter 9:Unit 9.1. doi: 10.1002/0471142905.hg0901s48.
This unit describes the two approaches for molecular genetic diagnosis, direct mutation analysis and linkage studies. Direct mutation analysis is possible if the gene responsible for a disorder has been cloned and techniques exist to detect mutations. Genetic linkage analysis is used when polymorphic markers are available that are closely linked to a disease gene but the gene itself has not been cloned, or when it is difficult or impossible to detect mutations in the gene. For direct mutation analysis, the unit offers a review of the types of mutations that can be detected and the strategies that can be employed for their detection. The unit then describes the types of disorders that are best suited for linkage-based analysis and offers guidance for interpreting the data.
本单元介绍了分子遗传学诊断的两种方法，即直接突变分析和连锁研究。如果导致某种疾病的基因已被克隆且存在检测突变的技术，那么直接突变分析是可行的。当有与疾病基因紧密连锁的多态性标记可用，但该基因本身尚未克隆时，或者当检测该基因中的突变困难或不可能时，可使用遗传连锁分析。对于直接突变分析，本单元综述了可检测到的突变类型以及用于其检测的策略。然后，本单元描述了最适合基于连锁分析的疾病类型，并提供了解释数据的指导。
