多重连接依赖性探针扩增技术在脊髓性肌萎缩症产前诊断中的应用

Application of multiple ligation-dependent probe amplification in molecular diagnosis and prenatal diagnosis of spinal muscular atrophy

目的：探讨多重连接依赖性探针扩增（MLPA）技术在脊髓性肌萎缩症（SMA）产前诊断中的应用价值。方法：收集3个SMA家系（10例），采集患儿及其父母的外周血及妊娠11～13拍周的绒毛，提取基因组DNA，运用MLPA技术进行产前诊断。结果：3例胎儿均为运动神经元存活基因（SMN）I杂合缺失，SMN2拷贝数正常；家系I先证者为SMN1纯合缺失及SMN2杂合重复：3个家系父母均有SMN1杂合缺失，部分还有SMN2杂合缺失或重复。结论：MLPA技术对SMA的产前诊断具有重要意义，可为遗传咨询提供可靠信息。

Objective： To investigate the application value of multiple ligation-dependent probe amplifica- tion （MLPA） technology in the prenatal diagnosis of spinal muscular atrophy （SMA）, and then guide the genetic counseling. Methods： Peripheral blood samples and 11-13＋6 weeks of pregnancy villi were collected from three pedigrees with SMA. DNA was extracted and then analyzed using MLPA. Results： Three fetuses had heterozygous deletion of the survival of motor neuron 1 （SMN1） gene and normal copy number of survival of motor neuron 2 （SMN2） gene. Proband of family I had homozygous deletion of SMN1 and homozygous repeat of SMN2. All of the parents had heterozygous deletion of the SMN1, and part of them had heterozygous deletion or homozygous repeat of SMN2. Conclusion： MLPA technology is important for prenatal diagnosis of SMA, since it can provide reliable information for genetic counseling.