Duchenne型肌营养不良病高危胎儿的产前基因诊断

应用ＤＮＡ分子杂交和１８对引物的多重聚合酶链反应（ｍＰＣＲ）技术，对１０例Ｄｕｃｈｅｎｎｅ型肌营养不良病（ＤＭＤ）的高危胎儿进行产前基因诊断。结果：７例男性胎儿中有３例存在与先证者相同的基因缺失，诊断为ＤＭＤ患儿，均行人工流产术。另４例为正常男性胎儿。３例女性胎儿，１例为突变基因携带者，２例为正常胎儿。以上１０例均经出生后复检证实。提示：ｍＰＣＲ技术简单、快速、特异性高，是一种很好的基因缺失筛查方法。本研究还对ＤＭＤ高危胎儿产前诊断的步骤进行了探讨。

Preuatal diagnosis of Duchenne's musculardystrophy fetus at risk

renatal diagnosis of Duchenne's musculardystrophy (DMD) have been carried out on 12 fetus atrisk. The gene mutations have been identified byhybridization with cDNA probes and / or multiplexPCR. The fetus examined were 7 males and 3 females.Three of the male fetus inhented the same deleted mu-tations as the probands, and other 4 appeared normal.Among the 3 female fetus, one carried a deleted gene.two were considered noimal. The diagnosis of thefetus were confirmed after birth or abortion. As themultiplex PCR can quickly detect about 98% of thedeletions on the dystrophin gene, it is not only an idealmethod for screening the gene deletion but can also beapplied to prenatal diagnosis immediately after the na-ture of the deletion have been identified among theprobands. The strategy of prenatal diagnosis of DMDin our country was also discussed.