缺失型Duchenne／Becker肌营养不良家系女性携带者及新发突变的确认(英文)

Identify Female Carriers and De Novo Mutations in Dele tional Duchenne/Becker Muscular Dystrophy Families

应用多重PCR(multiple polymerase reaction／mPCR)技术,联合DMD基因内部及附近11个短串连重复序列(short tandem repeats,STRs)位点连锁分析,对缺失型Duchenne／Becker肌营养不良(Duchenne／Becker Muscular Dystrophy, DMD／BMD)家系成员进行DMD基因分型,确定家系中女性成员是否携带者,并进行产前诊断。3个家系中的4名缺失型患者,其中2例为新发突变;4位女性成员中,1名为携带者。应用mPCR和11个STRs的连锁分析,能快速、准确、客观判断家系中女性成员是否携带者身份,适于DMD／BMD临床研究机构遗传咨询、基因诊断和产前诊断常规应用。但在 mPCR分析过程中,发现45号外显子扩增产物在不同凝胶中电泳迁移率不同。聚丙烯酰胺凝胶电泳(Polyacrylamide Gels Electrophoresis／PAGE)对mPCR产物分析快速、清晰,但需要注意片段迁移率,以防止分析错误。

By using multiple polymerase reaction （mPCR） and haploid analysis of 11 short tandem repeats （STRs） in dystrophin gene locus to identify female carriers in deletional DMD/BMD （Duchenne/Becker Muscular Dystrophy） families, valuable information can be gathered for prenatal diagnosis. In this article, de novo mutations were detected in two out of the four patients, and one of the four female members was identified as an obligate DMD gene carrier based on the haplotype analysis. Multiple PCR and STRs haploid linkage analysis are rapid, accurate, objective methods to identify female member status, and well suited for routine use in clinical laboratories engaged in DMD/BMD research for counseling, gene diagnosis and prenatal diagnosis. During mPCR analysis, the amplicon of exon 45 showed different electrophoresis mobility in different kinds of gels. Polyacrylamide Gels Electrophoresis （PAGE） was accurate and rapid for analyzing the products of mPCR, but the mobility of different amplicons need to be considered in data analysis.