X—连锁肌营养不良症的RFLP连锁分析

RFLP LINKAGE ANALYSIS OF X-LINKED MUSCULAR DYSTROPHY

本文报告了三个家族性DMD和(或)BMD家系,并用该基因位点内部DNA探针PERT87系列及XJ2.3和两翼连锁探针754和C7对它们进行了Southern分子杂交。根据上述DNA探针所检测到的多种DNA多态性标记,建立了三个家系中所有成员每条X染色体Xp21的RFLP单倍型,通过三个家系的单倍型连锁分析,在每个家系中找到了和致病基因紧密连锁的特异性DNA标记,结果将家系中大部分女性个体的携带者风险估计到临床可实践的范围。同时,这种DNA分析也为将来这些家系的产前基因诊断奠定基础。

Restrictior fragcment length polymorphisms(RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutations for Duchenne or Bccker muscular dystrophy(DMD, BMD). We report here the result of RFLP haplotype linkage analysis of three Chinese DMD/BMD pedigrees for female carrier risk estimation with availability of both intragenic and flanking markers. Of three DMD/BMD pedigrees, specific DNA marker closely linked to DMD/BMD mutation site was identified for each family, and carrier detection was possible in 75％ cases(9 out 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 pedigrees.