Harada Shuko, Korf Bruce R
University of Alabama at Birmingham, USA.
Curr Protoc Hum Genet. 2013;Chapter 9:Unit9.1. doi: 10.1002/0471142905.hg0901s76.
This unit describes the overview and strategies for molecular genetic diagnosis. Molecular genetic testing is typically used to detect changes in a single gene, and includes direct sequence analysis and detection of large deletion/duplication. Occasionally linkage analysis is still used when the gene is not known. Direct mutation analysis is possible if the gene responsible for a disorder has been identified. 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. The unit also overviews recent progress on high-throughput sequencing system and its possibility for its clinical application.
本单元介绍了分子遗传学诊断的概述和策略。分子遗传学检测通常用于检测单个基因的变化，包括直接序列分析和大片段缺失/重复的检测。当基因未知时，偶尔仍会使用连锁分析。如果已确定导致疾病的基因，则可以进行直接突变分析。当有与疾病基因紧密连锁的多态性标记可用，但基因本身尚未克隆时，或者当难以或无法检测到基因中的突变时，会使用遗传连锁分析。对于直接突变分析，本单元回顾了可以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，并为解释数据提供指导。本单元还概述了高通量测序系统的最新进展及其临床应用的可能性。
