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对于DMD和BMD来说,在检测有风险妇女的携带者状态时通常存在一些问题,所用方法一般都是Southern blot单倍型分析或剂量分析。作者应用多重PCR分析方法,在44个DMD/BMD家系中检测出20例缺失。这些缺失分布于散发病例中的比例(14/22)比分布于有家族史病例中的(4/15)要大,且这些缺失大部分(15/20)分布于DMD/BMD基因的两端区域。
There are often problems with DMD and BMD in detecting the status of carriers of at-risk women using Southern blot haplotype or dose analysis. The authors used multiplex PCR analysis to detect 20 deletions in 44 DMD / BMD pedigrees. The distribution of these deletions in cases of sporadic cases (14/22) was larger than that in families with family history (4/15), and the majority of these deletions (15/20) were distributed at both ends of the DMD / BMD gene area.