八个杜氏肌营养不良症家系的基因检测及产前诊断  

Genetic testing and prenatal diagnosis for eight families affected with Duchenne muscular dystrophy

作　　者：黎昱[1] 张建芳[1] 徐盈[1] 郭芬芬[1] 徐慧[1] 燕凤[1] 任菊霞[1] 王德堂[1] 陈必良[1] 

机构地区：[1]第四军医大学西京医院妇产科,西安710032

出　　处：《中华医学遗传学杂志》2015年第3期363-366,共4页Chinese Journal of Medical Genetics

摘　　要：目的 探讨杜氏肌营养不良症（Duchenne muscular dystrophy,DMD）患者家系致病基因突变的检测及产前诊断方法.方法 联合采用变性高效液相色谱、多重PCR、PCR测序和其它分子生物学技术,对8个家系中杜氏肌营养不良症患者进行诊断,对女性亲属进行携带者筛查,进行遗传咨询和产前诊断.结果 8例诊断为DMD的患者中,4例为大片段缺失,3例为点突变,患者中6例为新生突变.对5个家系进行产前诊断,抽取羊水或者绒毛组织进行检测,结果显示胎儿均正常,抽取脐带血复查肌酸激酶值,出生后进行临床鉴定,与产前诊断结论一致.结论 联合应用短串联重复序列分析、变性高效液相色谱技术、多重PCR技术和基因测序技术,可以提高DMD基因检测的准确率,为DMD家系成员的遗传咨询和产前基因诊断提供准确的依据,避免患病胎儿的出生.Objective To optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy （DMD）.Methods Denaturing high-performance liquid chromatography （DHPLC）,multiplex PCR （mPCR）,sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.Results Among the 8 cases,4 have carried large deletions,3 have point mutations,among which 6 were of de novo type.Prenatal diagnosis were offered for 5 families,the results showed that none of the fetuses had carried large deletions or point mutations.The pregnancies had continued and healthy babies were born.Conclusion Combined use of short tandem repeat,DHPLC,mPCR and sequencing can improve the detection of DMD gene mutations.By establishing and optimizing genetic and prenatal diagnostic methods,accurate genetic counseling can be provided for families affected with DMD.

关 键 词：杜氏肌营养不良症 变性高效液相色谱 聚合酶链反应 测序 产前诊断 

分 类 号：R746.204[医药卫生—神经病学与精神病学]