强直性肌营养不良的分子诊断

Current Protocols in Human Genetics Pub Date : 2018-02-13 DOI:10.1002/cphg.22

Sujata Chakraborty, Matteo Vatta, Linda L. Bachinski, Ralf Krahe, Stephen Dlouhy, Shaochun Bai

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引用次数: 1

摘要

肌强直性营养不良1型(DM1)和2型(DM2)是常染色体显性，微卫星重复扩张疾病，影响肌肉功能。1型肌强直性营养不良是由DMPK基因3 ' UTR区CTG重复扩增引起的。DM2患者CNBP基因内含子1中CCTG重复序列扩增。在本单元中，我们回顾并讨论了临床表型，导致疾病的基因突变，以及用于确定DM1/2重复序列大小的分子诊断方法和工具。总之，本章的目的是为读者提供对这些疾病的临床、遗传和诊断方面的基本了解。©2016 by John Wiley &儿子,Inc。

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Molecular Diagnosis of Myotonic Dystrophy

Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy type 1 is caused by CTG repeat expansion in the 3′ UTR region of the DMPK gene. Patients with DM2 have expansion of CCTG repeats in intron 1 of the CNBP gene. In this unit, we review and discuss the clinical phenotypes, genetic mutations causing the diseases, and the molecular diagnostic approaches and tools that are used to determine repeat sizes in DM1/2. In summary, the goal of this chapter is to provide the reader with a basic understanding of the clinical, genetic and diagnostic aspects of these disorders. © 2016 by John Wiley & Sons, Inc.

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Current Protocols in Human Genetics Biochemistry, Genetics and Molecular Biology-Genetics

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期刊介绍： Current Protocols in Human Genetics is the resource for designing and running successful research projects in all branches of human genetics.