10个DMD/BMD家系的基因诊断及其中3个家系的产前基因诊断分析  

The Gene Diagnosis in 10 Families with DMD/BMD and Prenatal Gene Diagnosis for 3 of them

作　　者：钟昌高[1,2] 张瞻[1,2] 李麓芸[1,2] 卢光琇[1,2] 

机构地区：[1]中南大学生殖与干细胞工程研究所 [2]中信湘雅生殖与遗传专科医院,湖南长沙410078

出　　处：《医学临床研究》2006年第9期1352-1355,共4页Journal of Clinical Research

基　　金：湖南省社会发展科技项目基金(批准号1013-8);湖南省自然科学基金(批准号03JJY3120)

摘　　要：【目的】对杜氏/贝氏肌营养不良症(DMD/BMD)家系进行基因诊断和产前基因诊断。【方法】抽提DMD家系成员外周血及胎儿羊水或脐静脉血全基因组DNA,采用PCR技术和聚丙稀酰胺凝胶银染法对DMD/BMD基因3'端及基因内的45、50内含子的(CA)n短串联重复序列(STR)多态性进行连锁分析。【结果】结果显示,7个家系可提供遗传连锁诊断信息,完成了其中3个家系的产前基因诊断并出生了一例健康的男性婴儿;3个家系不能提供遗传连锁诊断信息。可诊断率达70%。【结论】STR多态连锁分析适用于常见缺失突变检测未发现缺失的DMD/BMD患者,是一种快速、有效、准确、易于普及的基因诊断方法,能有效地提高DMD/BMD家系基因诊断和产前基因诊断的可诊断率。[Objective]To develop gene diagnosis and prenatal gene diagnosis in families with Duchenne/ Becker muscular dystrophy （DMD/BMD）. [Methods]The genomic DNA of the peripheral blood and fetal amniotic fluid or fetal umbilical vein blood was abtracted from the pedigrees＇ members with DMD. Then PCR and polyacrylamide gel silver staining method were used to analyse the polymorphism of the （CA）n short tandem repeat （STR） in 3＇ end and in the introns 45, 50 of DMD/BMD gene. [Results]Ten pedigrees with DMD were performed the linkage analysis, 7 pedigrees could provide the information for genetic linkage diagnosis, and 3 of them were also performed the prenatal gene diagnosis and a healthy infant was born. Three pedigrees couldn＇t provide the information for genetic linkage diagnosis. The diagnosis rate was 70%. [Conclusion]STR polymorphic linkage is suitable to detect patients with DMD/BMD which have not been found by common deletion detecting method. It is a kind of quick, effective, accurate and easily to be populated gene diagnosis method,can improve effectively the diagnosis rates of gene diagnosis and prenatal gene diagosis in pedigrees with DMD/BMD.

关 键 词：肌营养不良/诊断 产前诊断 

分 类 号：R746.2[医药卫生—神经病学与精神病学]