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应用限制性片段长度多态性(Restriction fragment length polymorphism,RFLP)分析法对一个Duchenne型肌营养不良症(Duchenne muscular dystrophy. DMD)家系进行了遗传学研究,包括家系调查和用8种限制性酶及由X染色体Xp21区不同部位获得的9种DNA探针,对Xp21区的13个位点进行了RFLP分析。从中发现该家系中DMD基因携带者有5到6个位点具有杂合的多态性,可以用作遗传标记,进行DMD携带者的检测和产前基因诊断。
A genetic study of a Duchenne muscular dystrophy (DMD) pedigree was conducted using Restriction Fragment Length Polymorphism (RFLP) analysis including pedigree investigation and restriction enzyme digestion with 8 restriction enzymes And nine kinds of DNA probes obtained from different parts of Xp21 region of X chromosome. RFLP analysis was performed on 13 loci in Xp21 region. It was found that DMD gene carriers in this pedigree had heterozygous polymorphism in 5 to 6 loci and could be used as genetic markers to detect DMD carriers and diagnose prenatal genes.