【摘要】 目的建立一种非创伤性的取材和快速胎儿性别诊断方法，并应用于Ｘ连锁遗传病的产前诊断。方法采用聚合酶链反应（ＰＣＲ）技术，从３５例孕妇和４例有Ｄｕｃｈｅｎｎｅ肌营养不良（ＤＭＤ）男性生育史的孕妇外周血中扩增Ｙ染色体长臂上的ＤＹＺ—１基因。结果３５例孕妇经ＰＣＲ检测，１９例有一条４４６ｂｐＹ染色体特异荧光带，提示胎儿为男性；１６例无此荧光带，提示胎儿为女性。４例ＤＭＤ高危胎儿中，３例出现４４６ｂｐ荧光带，提示为男性；１例无此荧光带，提示为女性。检测结果与随访新生儿出生性别或引产后外生殖器检查结果完全一致。结论本方法快速、灵敏而准确，推广应用对Ｘ连锁遗传病的产前诊断具有重要意义。更多还原

【Abstract】 Objective To find a way of sampling without any wound and quick diagnosis of fetal sex and its application in X-linked recessive inheritance.Methods By means of PCR technique,to increase the DYZ-1 gene on the long arm of Y chromosome in the peripherical venous blood of 35 pregnant women and 4 pregnant women with DMD male child bearing history.Results Through PCR detection,of the 35 pregnant women,19 had a 446 bp Y chromosome specific fluorescent striate band,which indicated that the fetus was of male;16 didn’t have this fluorescent striate band,which indicated that the fetus was of female.Of the 4 cases of DMD high risk fetus,3 had 446 bp fluorescent striate hand,indicating that the fetus was of male;1 didn’t have this band,indicating that the fetus was of female.The results of detection were the same as the results of the follow-up survey of birth sex.Conclusion This method has the characteristics of quickness,sensitivity and accurricy.Its application is of great importance in prenatal diagnosis.更多还原