Duchenne型肌营养不良病高危胎儿的产前基因诊断

Preuatal diagnosis of Duchenne's musculardystrophy fetus at risk

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。

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.