用短串联重复序列单体连锁分析进行肌营养不良症产前基因诊断

目的对２０个迪谢内／贝克肌营养不良症（ＤＭＤ／ＢＭＤ）家系进行产前基因诊断。方法应用多重聚合酶链反应（ｍＰＣＲ）和短串联重复序列（ＳＴＲ）多态单体连锁分析对２０个ＤＭＤ／ＢＭＤ家系的成员进行产前基因分析。结果１６个家系可提供充足的多态性信息，４个散发型家系不能提供多态性信息。１１例男性胎儿中，３例存在基因缺失，４例非缺失型男性胎儿的单体型与其携带者母亲相同，确定为ＤＭＤ胎儿。９例女性胎儿中５例继承了母亲的单体型，为致病基因携带者。５１例先证者母亲及其他女性血亲为杂合型。结论ＳＴＲ单体连锁分析快速、准确，基因组ＤＮＡ需要量小，可提供的信息量高，适合非缺失型ＤＭＤ／ＢＭＤ家系产前诊断的需要。同时选择ＤＭＤ基因两端和基因内４个位点进行连锁分析，可大大提高诊断的准确率

The prenatal diagnosis of Duchenne/Becker muscular dystrophy using STR haploid linkage analysis

Objective To perform prenatal diagnosis in 20 families with Duchenne/Becker muscular dystrophy (DMD/BMD). Methods Persons in 20 DMD/BMD families were analyzed with multiplex polymerase chain reaction (mPCR) and short tandem repeats (STR) haploid linkage analysis. Results The polymorphism information were provided completely in 16 families, and incompletely in 4 sporadic families. In 11 male fetuses, 3 cases had gene deletion, and 4 nondeletive cases had same haploid as their mothers were confirmed to be DMD fetuses. Five of 9 female fetuses were DMD gene carrier, they inherited the haploid of their mothers. Fifty one mothers of proband and other female relatives were heterozygous. Conclusion The STR haploid linkage analysis was rapid and accurate, the required amount of genomic DNA was small, the provided amount of information might be large. It met the required prenatal diagnosis in nondeletive DMD/BMD families. The linkage analysis performed with 4 sites of DMD gene might greatly improve the accurate rate of diagnosis.