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[通过两种多重聚合酶链反应快速筛查杜氏肌营养不良症基因缺失]

[Rapid screening of the Duchenne muscular dystrophy gene deletion by two multiplex PCR].

作者信息

Ma S

机构信息

Institute of Basic Medical Sciences, Beijing.

出版信息

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1993 Feb;15(1):74-8.

PMID:8324844
Abstract

Duchenne muscular dystrophy (DMD) is one of the most common lethal X-linked disorders. Partial intragenic deletions account for up to 60% of DMD deletions, and approximately one-third of all cases arise via new mutations. In this paper, two sets of primers were used for two multiplex PCR screenings of DMD gene deletions. The first set consists of 5 pairs of primers which amplify 5 exons with higher deletion frequencies, and the second set includes other 4 pairs of primers. Fifty-one DMD samples were screened by the first set, and then those not found to have deletions were screened by the second set. In total, 25 deletions were identified in the Fifty-one DMD samples: That is, about 49% of all cases studied were found to have deletions.

摘要

杜氏肌营养不良症(DMD)是最常见的致死性X连锁疾病之一。基因内部分缺失占DMD缺失的比例高达60%,所有病例中约三分之一是由新突变引起的。在本文中,两组引物用于DMD基因缺失的两次多重PCR筛查。第一组由5对引物组成,可扩增5个缺失频率较高的外显子,第二组包括另外4对引物。先用第一组引物对51个DMD样本进行筛查,然后对未发现缺失的样本用第二组引物进行筛查。在这51个DMD样本中共鉴定出25个缺失:也就是说,在所研究的所有病例中,约49%被发现存在缺失。

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