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本文采用１８ 对引物，Ａ、Ｇ 两套ＰＣＲ 多重反应体系，对我院３７ 例进行性肌营养不良（ＤＭＤ） 患者进行基因缺失检测，其中１９ 例患者有不同区域的缺失。其缺失区域集中在４５５２ 号外显子，最高峰在４８ 号外显子，与国外文献报道基本一致。另外应用６ 对重复双核苷酸序列多态性引物采用ＰＣＲ 方法对４ 个非缺失型家系，进行扩增片段长度多态性分析发现，所有４ 个家系，均具有２ 个以上多态性标记。对这些家系通过连锁分析，可对非缺失型家系进行快速的基因诊断，杂合子或携带者检出，并可进行可靠的产前诊断。
In this study, 18 pairs of primers, A, G two sets of PCR multiplex reaction system in our hospital 37 cases of muscular dystrophy (DMD) patients with gene deletion detection, of which 19 patients with different regions of the deletion. The deletion region concentrated in 4552 exons, the peak in exon 48, with foreign literature is basically the same. In addition, six pairs of repeated nucleotide polymorphism primers were used to analyze the four non-deletional pedigrees by PCR. The amplified fragment length polymorphism analysis showed that all four families had two or more polymorphic markers. Through the linkage analysis of these families, non-deletion pedigrees can be rapidly genotyped, detected by heterozygotes or carriers, and reliable prenatal diagnosis can be performed.