应用多重连接依赖性探针扩增技术进行脊髓性肌萎缩症的基因诊断及产前诊断  

Studies on the molecular diagnosis and prenatal diagnosis of the spinal muscular atrophy carriers by multiplex ligation-dependent probe

作　　者：朱海燕[1] 胡娅莉[1] 李洁[1] 杨滢[1] 吴星[1] 

机构地区：[1]南京大学医学院附属鼓楼医院产前诊断中心,210008

出　　处：《中华医学遗传学杂志》2010年第1期38-41,共4页Chinese Journal of Medical Genetics

基　　金：江苏省科教兴卫工程重点学科母胎医学中心资助项目（XK200709）;江苏省人事厅“六大人才高峰”资助项目（D类）;南京市医学科技发展重大项目

摘　　要：目的探讨多重连接依赖性探针扩增（multiplex ligation-dependent probe amplification，MLPA）技术在脊髓性肌萎缩症（spinal muscular atrophy，SMA）基因诊断及产前诊断中的应用。方法选择来自8个SMA家系的患者4例，父母16例，胎儿4例，应用MLPA技术进行分析，对患者同时应用聚合酶链反应一限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism，PCR—RFLP）方法进行分析。结果对患者的检测，MLPA分析结果与PCR-RFLP检测结果相符，4例患者的运动神经元存活基因（survival motor neuron gene，SMN）1的第7和第8外显子均为纯合缺失。除家系1、4母亲的SMN1基因MLPA检测结果与其他家系不同外，其余各家系14名父母均明确诊断为SMN1基因杂合缺失突变携带者。结论MLPA技术是一种准确可靠的基因定量分析方法，适合于SMA患者、携带者的基因诊断及产前诊断。Objective To study the application of the multiplex ligation dependent probe amplification （MLPA） method in genetic and prenatal diagnosis for spinal muscular atrophy （SMA）. Methods Four patients, 16 parents and 4 fetuses from 8 SMA pedigrees were included. MLPA was performed for molecular analysis, and polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used for the mutation detection of the 4 patients. Results For all the four patients, the same homozygous deletion of the exons 7 and 8 of the survival motor neuron 1 （SMN1）gene, was detected by PCR-RFLP and MLPA. All fourteen parents from the 8 pedigrees were carriers of the SMN1 gene heterozygous deletion, except the mothers in pedigrees 1 and 4 in whom the mutations were different. Conclusion MLPA is a simple and efficient quantitative method for copy number analysis of the SMN genes. It can be used for the genetic diagnosis and prenatal diagnosis of the SMA patients and carriers.

关 键 词：脊髓性肌萎缩 多重连接依赖性探针扩增 运动神经元存活基因 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]