摘要
目的对温州地区14个脊髓性肌萎缩症患者进行临床表型分析,并为其家庭提供产前分子诊断评估再生育风险。方法运用多重连接依赖性探针扩增技术(MLPA)技术对14个家系行生存运动神经元基因(survival motor neuron,SMN)及其他SMA致病相关基因拷贝数检测,并结合限制性酶切片段长度多态性聚合酶链式反应(PCR-RFLP)和STR位点检测对该14个家系16例胎儿行产前诊断。结果 14例家系中,先证者Ⅰ型8例,Ⅱ型5例,Ⅲ型1例,MLPA结果显示,6例胎儿正常,7例为携带者,3例为患者。PCR-RFLP检测结果与MLPA检测结果一致。STR位点检测结果显示,有两例绒毛样本存在轻微母源DNA污染,其余标本均未受到母源DNA的污染。结论采用MLPA技术,联合PCR-RFLP法及STR位点检测法对SMA家系行产前分子诊断,具有快速准确等优点,可有效避免SMA患儿出生。
Objective：To analyze the clinical features of 14 spinal muscular atrophy patients from Wenzhou,and to launch genetic counseling and prenatal diagnosis for their families. Methods：Multiplex ligation-dependent probe amplification（MLPA）was employed to detect the gene copies of survival motor neuron gene（SMN）and other SMA genes in 14 families,The results were identified by restriction enzyme digestion fragment length polymorphism polymerase chain reaction（PCR-RFLP）. Maternal DNA contaminations were excluded by application of short tandem repeat technology（STR）in the process of prenatal molecular diagnosis for 16 fetuses from 14 families. Results：Of the 14 patients,8 cases were typeⅠ,5 cases were typeⅡand 1 case was type Ⅲ. In the process of SMA prenatal molecular diagnosis,MLPA detected 6 fetuses were normal,7 were carriers and 3 were patients. MLPA results agree with the results of PCR-RFLP method. STR test found two chorionic villi sample exist maternal DNA,while others were not. Conclusions：MLPA technology,combined the PCR-RFLP method and STR test can improve the efficiency and stability of prenatal diagnosis for SMA pedigrees,then prevent the birth of children with SMA.
作者
徐晨阳
项延包
卢金芳
徐云芝
陈冲
朱东宁
李焕铮
XUChen-yang XIANG Yan-bao LU Jin-fang XU Yun-zhi CHEN Chong ZHU Dong-ning LI Huan-zheng(The Central Hospital of Wenzhou, 325000 Chin)
出处
《中国优生与遗传杂志》
2017年第10期21-24,共4页
Chinese Journal of Birth Health & Heredity
基金
浙江省医药卫生科技项目(项目编号:2015KYB363)
浙江省自然科学基金(项目编号:LQ16H200001)
温州市公益性科技计划项目(项目编号:Y20150305)
作者简介
通讯作者：李焕铮
