假肥大型肌营养不良症15例家系的基因检测及产前诊断

Gene detection and prenatal diagnosis of 15 families with Duchenne muscular dystrophy

目的对15例假肥大型肌营养不良家系进行基因型分析。并为其家庭提供产前分子诊断评估再生育风险。方法联合多重连接依赖性探针扩增(MLPA)检测和单体型连锁分析分别对15例家系行假肥大型肌营养不良(DMD)的DMD基因诊断。所有产前诊断标本均通过STR位点检测排除母血污染。结果 MLPA检测结果显示,15例先证者中DMD基因缺失型11例,重复型4例;其中2例先证者母亲未携带DMD基因变异;产前诊断患胎5例,携带者1例,正常胎儿9例。单体型连锁分析结果显示与MLPA检测结果一致。结论 MLPA技术联合单体型连锁分析可快速准确检出胎儿DMD基因型,为DMD家系成员的遗传咨询和产前基因诊断提供准确的依据,避免患病胎儿的出生。

Objective To analyze the genotype of 15 families with Duchenne muscular dystrophy. Prenatal molecular provide for their families to assess the risk of reproduction. Methods the DMD gene of 15 pedigrees with Duchenne muscular dystrophy(DMD) was diagnosed by MLPA assay and haplotype linkage analysis. ALL Prenatal diagnostic specimens were detected by STR locito exclude maternal blood contamination. Results MLPA results showed that 11 of 15 probands were DMD gene deletion type.Among them 2 proband mothers did not carry DMD gene mutation 5 cases of prenatal diagnosis. 1 case of carrier and 9 cases of normal fetus. The result of single body linkage analysis was consistent with that of MLPA. Conclusion MLPA combined with haplotype linkage analysis can rapidly and accurately detect the DMD genotype of fetus. And provide accurate basis for genetic counseling and prenatal diagnosis of DMD family members. And avoid the birth of sick fetus.