摘要
目的探讨多重连接依赖探针扩增技术（multiplexligation-dependentprobeamplification，MLPA）联合短串联重复序列（shorttandemrepeat，STR）基因连锁分析用于Duchenne型假肥大型肌营养不良症（Duchennemusculardystrophy，DMD）产前诊断的价值。方法通过检测Y染色体性别决定基因（Ychromosomesex-determininggene，SRy）判断胎儿性别；MLPA检测45个DMD家系中先证者、孕妇以及胎儿Dystrophin基因突变情况，并对家系成员和胎儿进行第45、49、50内含子以及5’和3’端STR的连锁分析。结果45个进行产前诊断的家系中，SRY阳性31例，其中6例为DMD患病胎儿；阴性14例，其中4例为携带者，余未见异常。结论MLPA能检测胎儿Dystrophin基因外显子突变情况，STR连锁能分析胎儿是否继承母源性风险X染色体，因此，STR连锁分析能发现MLPA技术检测不到的外显子突变胎儿。将两种方法结合起来用于DMD的产前诊断准确性更高。
Objective To investigate the efficiency of multiplex ligation-dependent probe amplification （MLPA） combined with short tandem repeat （STR） linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy （DMD）. Methods Gender of the fetus was first determined by the presence of Y chromosome sex-determining gene （SRY）. Subsequently, combined MLPA and STR linkage analysis were applied for the probands, pregnant women and fetuses in 45 affected families. Results Among the 45 families, 31 SRY-positive fetuses were identified, among whom six were diagnosed with DMD. For 14 SRY- negative fetuses, four were diagnosed as carriers. The remainders were normal. Conclusion MLPA can detect mutations in the exons of dystrophin gene, whilst STR linkage analysis can determine whether the fetus has inherited the maternal X chromosome bearing the mutant gene. As the result, the method can therefore detect affected fetuses in which no exonic mutations are detected with MLPA. By combining the two methods, the diagnostic rate for DMD can be greatly improved.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第1期40-44,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（81170581）
关键词
多重连接依赖探针扩增
短串联重复序列
连锁分析
杜氏肌营养不良症
产前诊断
Multiplex ligation-dependent probe amplification
Short tandem repeat
Linkage analysis
Duchenne muscular dystrophy
Prenatal diagnosis
