脊髓性肌萎缩症的基因诊断及其应用研究  

Gene diagnosis for spinal muscular atrophy and its application study

作　　者：曹东华[1,2] 任梅宏[1] 林长坤[1] 崔婉婷[1] 麻宏伟[3] 武盈玉[3] 金春莲[1] 

机构地区：[1]中国医科大学基础医学院医学遗传学教研室,沈阳110001 [2]中国人民解放军第二0二医院检验科 [3]中国医科大学附属第二临床医院发育儿科

出　　处：《中华医学遗传学杂志》2009年第3期306-309,共4页Chinese Journal of Medical Genetics

基　　金：‘十一五’国家科技支撑计划（2006BA105A08）

摘　　要：目的对脊髓性肌萎缩症患者及携带者进行基因诊断和产前基因诊断。方法对26例脊髓性肌萎缩症患者应用PCR-限制性片段长度多态性（PCR-restiction fragment length polymorphism，PCR-RFLP）技术检测SMN1基因第7外显子是否缺失；对于患者的父母应用多重PCR结合变性高效液相色谱（denaturing high performance liquid chromatography，DHPLC）的方法进行携带者诊断；而既往生产过患儿的孕妇于孕中期抽取羊水，进行产前基因诊断。结果26例脊髓性肌萎缩症患者中查出25例存在SMN1基因第7外显子纯合缺失；患者的父母全部为SMN1基因第7外显子杂合缺失携带者；对20名既往生产过患儿的孕妇进行了产前诊断，8名存在SMN1基因第7外显子纯合缺失。结论PCR—RFLP、多重PCR结合DHPLC技术可应用于患者及携带者基因诊断；PCR—RFLP可用于脊髓性肌萎缩症的产前基因诊断。Objective To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy （SMA）. Methods Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children. Results Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP. Conclusion PCR-RFLP and multi- PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.

关 键 词：多重PCR 变性高效液相色谱 脊髓性肌萎缩症 运动神经元生存基因 

分 类 号：R686[医药卫生—骨科学]