Amp-FLP连锁分析对DMD基因诊断的价值

APPLICATION OF AMP FLP LINKAGE ANALYSIS IN GENE DIAGNOSIS OF DMD

①目的 探讨扩增片段长度多态性（Ａｍ ｐ－ＦＬＰ）连锁分析对杜氏进行性肌营养不良（ＤＭＤ）基因诊断中的价值。②方法 运用多重聚合酶链反应（ＰＣＲ）、聚丙烯酰胺凝胶电泳银染法，对１０ 个ＤＭＤ家系成员的抗肌营养不良蛋白基因内９个基因区进行了Ａｍ ｐ－ＦＬＰ连锁分析。③结果 １０ 个ＤＭＤ家系中的９ 个先证者，６ 例为外显子缺失，１ 例为内含子缺失，２ 例为非缺失型。④结论 Ａｍ ｐ－ＦＬＰ连锁分析是对ＤＭＤ进行基因诊断的实用方法。

Objective\ To explore the value of Amp FLP Linkage analysis on gene diagnosis of Duchenne muscular dysdrophin(DMD).\ Methods\ The amplified fragment length polymorphism of 9 gene regions of the dysdtrophin gene in 10 DMD families was linkedly analyzed by multiplex PCR, PAGE and silver staining.\ Results\ 6 exon, 1 intro deletion and 2 non deletion were detected in 9 probands of 10 DMD families.\ Conclusion\ Amp FLP linkage analysis is a useful method in gene diagnosis of DMD.\;