中文摘要：

目的：对未知遗传类型的Duchenne肌营养不良（DMD）家系早期妊娠风险胎儿进行产前基因诊断,确定能否接续妊娠,并探讨检测技术。方法：通过TRIzol方法从孕妇羊水中提取胎儿DNA,用Promega提血试剂盒提取家系其他成员外周血中的DNA。选取Xp21.1区附近的6对荧光引物对12个样本DNA进行PCR扩增和多态性连锁分析,以确定风险X染色体;通过DMD50和SRY2对引物的多重PCR扩增确定胎儿性别。连锁分析与性别鉴定相结合对胎儿进行产前诊断。结果：发现该胎儿为1正常女胎,未携带风险X染色体,且胎儿产后复查结果与产前检测一致。结论：这种方法提示对缺失或/和非缺失型DMD风险胎儿的检测可一步完成,而且扩大了基因的检测范围,诊断结果更为准确可靠。

英文摘要：

Objective：To determine the genetic type of a fetus with Duchenne muscular dystrophy （DMD） pedigree,and to search the experimental method for prenatal gene diagnosis of DMD. Methods：The DNA of the fetus and other family members were obtained respectively by TRIzol and Promega blood extracted kit from the amniotic fluid and peripheral blood. Six pairs of fluorescent primers near the Xp21.1 were chosen for PCR and linkage analysis,by which the risk X chromosome was determined. Through the multiple PCR assay with the primers of DMD50 and SRY,the gender of the fetus was determined. Results：The fetus was female and normal,and did not carry the risk X chromosome. Conclusion：This method can not only enlarge the range of gene examination,but also finish the test of non-deletion or/and deletion DMD risk fetus in one step. It makes the result much more reliable.