单基因遗传病基因诊断技术研究进展  

Research advance in genetic diagnosis of monogenic inherited diseases

作　　者：郭奕斌[1] 梁宇静 郭东炜[3] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广东广州510080 [2]中山大学医学遗传室业余科研小组,广东广州510080 [3]厦门大学医学院,福建厦门361102

出　　处：《分子诊断与治疗杂志》2016年第1期46-53,共8页Journal of Molecular Diagnostics and Therapy

基　　金：国家自然科学基金(30772069);闽粤横向科研基金(71010025)

摘　　要：单基因遗传病(简称单基因病)种类、分型繁多,常规诊断难以确诊,而基因诊断技术在遗传病特别是单基因病的确诊、分型等方面都发挥着不可或缺的作用。近一、二十年来,基因诊断技术进展迅猛,各种检测方法层出不穷。本文重点围绕基因诊断技术的最新进展进行综述,以期对临床诊断和预防工作提供一些有益的启示。Monogenic diseases are caused by inheritance of single mutated gene, but the type of the diseases are diversified depending on the type and locus of genetic mutation inherited. While conventional laboratory methods may contribute to an initial identification, a definitive diagnosis and classification of these inherited disorders often need molecular/genetic testing. In the past twenty years, diagnostic techniques for the genetic disorders have rapidly advanced, leading to the invention of many laboratory tests for the detection of genetic disorders. In this article, we review the recent advance in the diagnostic modalities for the genetic disorders, in hope of setting light on improvement of the clinical diagnosis and prevention.

关 键 词：单基因病 基因诊断 技术方法 

分 类 号：R596.2[医药卫生—内科学]