杜氏肌营养不良症产前基因诊断的初步探讨

Primary study on prenatal diagnosis of Duchenne muscular dystrophy

目的对杜氏肌营养不良症(duchenne muscular dystrophy,DMD)家族史的胎儿进行dystro-phin基因缺失型的产前诊断,并探讨其产前诊断流程。方法对3例有DMD家族史的胎儿,利用羊水细胞培养行染色体核型分析及B超检查确定胎儿性别;利用脐带血穿刺标本,应用多重聚合酶链式反应(multiplepoly-merasechainreaction,mPCR)技术,结合生化检测指标,进行DMD基因缺失型的产前诊断。结果3例高危胎儿确诊为男性胎儿,存在基因缺失,相应肌酶有不同程度的升高,诊断为DMD患儿。结论在结合多种临床实验室检查的基础上,mPCR是可应用于DMD的产前诊断。该技术也存在局限性,如只能检测男性胎儿基因缺失型突变。

Objective To evaluate multiplex polymerase chain reaction （mPCR） in simultaneous detection of some common deletions of dystrophin gene and to establish the prenatal diagnostic procedure for the high - risk fetus of Duchenne muscular dystrophy （DMD）. Methods Three high- risk fetuses with a family history of DMD were prenatally examined in our hospital from Nov 2003 to Jan 2006. The fetal gender was determined by amnio - cell karyotyping or ultrasonography. DNA was extracted from blood samples collected by PTC. Prenatal diagnosis was made by mPCR combining with clinical biochemistry tests. Results All of the three fetuses were diagnosed with DMD due to the existence of certain gene deletions and the high level of creatine kinases. The pregnancy was terminated immediately. Conclusion Combined with the other clinical laboratory tests, mPCR can be used as a rapid, efficient and feasible method in prenatal diagnosis of DMD, but with some limitations when considering its only app - lication in detecting deletion mutations of male fetus.