摘要
本文选用10个DMD基因内部和桥探针,对山东省9个地区的21个DMD/BMD家系的173名成员进行RFLP分析,其中可疑携带者55人。多数家系应用1—3个探针,有基因重组家庭选用4—5个探针,便可完成多态分析。RFLP分析可以确定85.45%的可疑携带者(≥95%可信限),即13人确定为携带者,30人排除携带者,另有4人风险大幅提高。通过这些探针的群体多态检测和不同家庭结构和类型的应用分析,我们提出了在中国人群中DMD/BMD基因诊断的基本程序。
There were eight intragenic and two flanking bridge DNA polymorphic markers used in the RFLP analysis in 21 Duchenne and Becker muscular dystrophy selected from nine different districts in Shandong Province. A total number of 173 individuals of the families were accepted for gene tracking and carrier detection, as well as prenatal diagnosis. Based on the frequency of the probe polymorphism tested in our study of 53 unrelated individuals, one to three high polymorphic probes were sequentially used and all families presented the informati-veness in RFLP analysis. Some more introgenio probes were supplied for assessment of mutated sites and carrier status with the help of gene phases, if recombinations were found. Our results presented a ratio of 85.45% of carrier detection at risk females with 95% or more reliability, including 17 carriers and 30 non-carriers. It was not able to ascertain the carrier status of 8 females because of DNA absence from key family members. Finally, we proposed a diagnostic procedure for the RFLP analysis ro DMD/BMD families.
