Becker型肌营养不良症的限制性片段长度多态连锁分析

RFLP linkage analysis to Becker muscular dystrophy

本文收集确诊的9个BMD家系,检出25例患者,平均发病年龄6.25岁,瘫痪年龄23.43岁,最年长者51岁。有4个家系接受RFLPs分析。在4个有多态信息的BMD基因内部探针检测中,共排除和确定携带者19人,确定2个家系基因突变的起源。并根据基因缺失和重组关系,将突变位点进行了区域定位,结论是BMD突变位点有多样性。

In 9 Becker musculer dystrophy (BMD) families screened from 71 X-linked muscular dystrophy,25 affected individuals were ascertained.The average ages of unstable walking and paralysis of low extremities were 6.25 and 23.4 years,respectively.The eldest patient was 51 years old.4 famillies accepted (RFLP) linkage analysis.We were able to ascertain and reject carrier risk in 19 possible carriers by using 4 BMD intragenic probes which showed higher polymorphisms.Based on the result of haplotypes and gene phases,2 mutation o-rigins and sites were demonstrated.In summary,there were varied mutation distribution within BMD gene.