一种使用高分辨率熔解聚合酶链反应对mdx小鼠进行基因分型的新颖且简单的方法。

A novel and simple method for genotyping the mdx mouse using high-resolution melt polymerase chain reaction.

作者信息

Trebbin Andrea L, Hoey Andrew J

机构信息

Centre for Systems Biology, Department of Biological and Physical Sciences, Faculty of Sciences, University of Southern Queensland, Toowoomba, Queensland 4350, Australia.

出版信息

Muscle Nerve. 2009 May;39(5):603-8. doi: 10.1002/mus.21215.

DOI:10.1002/mus.21215

PMID:19347923

Abstract

The mdx mouse mutation arises from a C-to-T point mutation, which terminates the translation of dystrophin and results in the loss of a functional dystrophin protein. mdx mice are used widely in studies of the role of dystrophin and of potential treatments for Duchenne muscular dystrophy, thus accurate genotyping is essential. Current methods require labor-intensive efforts and can often lead to misconstrued results. This study describes a simple and highly reliable, sensitive, and user-friendly, high-resolution melt (HRM) assay that is able to utilize DNA obtained from a variety of sources in order to genotype the known sequence variant of the mdx mouse. Muscle Nerve 39: 603-608, 2009.

摘要

mdx小鼠突变源于C到T的点突变，该突变终止了抗肌萎缩蛋白的翻译，导致功能性抗肌萎缩蛋白的缺失。mdx小鼠被广泛用于抗肌萎缩蛋白作用及杜氏肌营养不良症潜在治疗方法的研究，因此准确的基因分型至关重要。目前的方法需要耗费大量人力，且常常导致结果误解。本研究描述了一种简单、高度可靠、灵敏且用户友好的高分辨率熔解（HRM）分析方法，该方法能够利用从多种来源获得的DNA对mdx小鼠已知的序列变异进行基因分型。《肌肉与神经》39: 603 - 608, 2009年。