Zhu Hai-Yan, Wu Ling-Qian, Liang De-Sheng, Pan Qian, Xia Jia-Hui
National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China.
Yi Chuan Xue Bao. 2006 Mar;33(3):206-12. doi: 10.1016/S0379-4172(06)60041-3.
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.
通过使用多重聚合酶反应（mPCR）以及对肌营养不良蛋白基因位点的11个短串联重复序列（STR）进行单倍型分析，以鉴定缺失型杜氏/贝克型肌营养不良症（DMD/BMD）家系中的女性携带者，可为产前诊断收集有价值的信息。在本文中，4名患者中有2名检测到新发突变，并且基于单倍型分析，4名女性成员中的1名被确定为DMD基因的肯定携带者。多重PCR和STR单倍型连锁分析是鉴定女性成员状态的快速、准确、客观的方法，非常适合从事DMD/BMD研究以进行遗传咨询、基因诊断和产前诊断的临床实验室常规使用。在mPCR分析过程中，外显子45的扩增子在不同类型的凝胶中表现出不同的电泳迁移率。聚丙烯酰胺凝胶电泳（PAGE）用于分析mPCR产物准确且快速，但在数据分析时需要考虑不同扩增子的迁移率。
