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泰国儿童患者中杜氏肌营养不良症(DMD)基因缺失的检测

Detection of DMD gene deletions in Thai children patients.

作者信息

Kamolsilp M, Paditaporn R, Noonai A, Wasant P

机构信息

Department of Pediatrics, Pramongkutklao Hospital, Thailand.

出版信息

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:172-4.

PMID:8629100
Abstract

For the dystrophin gene, it has been shown that about 65% of DMD/BMD patients have detectable deletions. The majority of deletions are clustered in exons 45-53 and at the 5' terminus. We studied 14 X-linked muscular dystrophy (DMD) Thai child patients for detection of gene deletions by amplification of nine exons plus the promoter of the dystrophin gene in two multiplex polymerase chain reactions that included hot spot region (exons 45-53 and 5' terminus). There were 8 DMD patients who had incomplete gene deletion and most of the deletions were around exon 49. PCR-base assays will allow deletion detection from dry blood spot samples and prenatal diagnosis.

摘要

对于肌营养不良蛋白基因,已表明约65%的杜氏肌营养不良症(DMD)/贝克型肌营养不良症(BMD)患者存在可检测到的缺失。大多数缺失集中在外显子45 - 53和5'端。我们研究了14名泰国X连锁型肌营养不良症(DMD)儿童患者,通过在两个包含热点区域(外显子45 - 53和5'端)的多重聚合酶链反应中扩增肌营养不良蛋白基因的九个外显子加上启动子来检测基因缺失。有8名DMD患者存在不完全基因缺失,且大多数缺失位于外显子49附近。基于PCR的检测方法将能够从干血斑样本中检测缺失并进行产前诊断。

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