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目的 :对DMD进行无创伤性产前基因诊断。方法 :采用孕妇外周血 ,ZFY基因及DMD基因多重PCR反应体系 ,对 3例进行性肌营养不良DMD患者的母亲再次怀孕时的胎儿进行无创伤性产前基因诊断。结果 :1例女性胎儿 ,两例男性胎儿。男性胎儿中 1例与其先证者哥哥同为外显子 48缺少 ,另 1例同为基因突变型。结论 :无创伤性产前基因诊断X -连锁隐性遗传病DMD是可行的。
Objective: To perform noninvasive prenatal diagnosis of DMD. Methods: The noninvasive prenatal genetic diagnosis was performed on fetus of 3 pregnant women with DMD who were pregnant again. The peripheral blood of pregnant women, ZFY gene and DMD gene multiplex PCR reaction system were used. Results: One female fetus and two male fetuses. One case of male fetus with its proband brother with exon 48 is missing, the other with the same gene mutation. Conclusion: Noninvasive prenatal diagnosis of DMD with X - linked recessive genetic disease is feasible.