三个X-连锁肌营养不良症家系的RFLP连锁分析

RFLP LINKAGE ANALYSIS OF XLINKED MUSCULAR DYSTROPHY

作者采用DMD基因位点内部和两翼连锁DNA探针对3个中国人家族性DMD/BMD家系进行了RFLP单体型连锁分析。结果表明利用该分析方法对女性个体的携带者风险估计,其准确性较单纯的系谱分析和(或)非特异性生化指标的检测大大提高。提示对于仅有1代多个发病个体的DMD/BMD家系,RFLP连锁分析有可能追溯到突变基因的起源。

Restriction fragment length polymorphisms (RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutations for Duchenne or Becker muscular dyatrophy (DMD, BMD). We report here the result of RFLP haplotype linkage analysis of three Chinese DMD/BMD families for female carrier risk estimation with availability of both intragenic and flanking markers. Of three DMD/BMD families, specific DNA marker closely linked to DMD mutation site was identified for each family and carrier detection was possiblein 75% cases (9 of 12 females) with a reliability of no less than 95% by the DNA analysis. Information derived from the RFLP approach could be applied to prenatal diagnosis in the members of the abovementioned DMD/BMD families. Additionally, our finding strongly suggests that the RFLP approach is useful in tracing the origin of BMD locus mutation in the families in which affected boys aro present in only one generation and helpful in genetic consultation.