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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。
The authors used RFLP haplotypic linkage analysis of the DMD / BMD pedigrees of three Chinese families using DMD gene loci and two-flanking DNA probes. The results show that using this method to estimate the risk of carriers of the female individual, the accuracy of the method is much higher than that of pure pedigree analysis and / or nonspecific biochemical detection. Tip For a DMD / BMD pedigree with only one generation of multiple individuals, the RFLP linkage analysis may be traced back to the origin of the mutated gene.