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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+6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)1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 value of multiple attachment-dependent probe amplification (MLPA) in prenatal diagnosis of spinal muscular atrophy (SMA). Methods: Three SMA families (10 cases) were collected. Peripheral blood of children and their parents and villi of 11-13 + 6 weeks of gestation were collected. Genomic DNA was extracted and prenatal diagnosis was performed by MLPA technique. Results: All the 3 fetuses were heterozygous deletion of SMN1 gene and normal copy number of SMN2. The homozygous SMN1 homozygous deletion and SMN2 heterozygous duplication were observed in all the 3 fetuses. SMN1 heterozygous Missing part of SMN2 heterozygous deletion or duplication. Conclusion: The MLPA technique is of great importance to the prenatal diagnosis of SMA, which can provide reliable information for genetic counseling.