摘要
Wilson's病(WD)的杂合子检识及症状前诊断是临床上的两大难题。本研究率先在国内应用多聚酶链式反应方法扩增WD基因内部及其两侧翼的微卫星多态-D135301、D13S133和D13S314,对12个WD家系的82名成员进行单体型连锁分析,判断出25名肯定携带者,18名正常纯合子及2名症状前患者,弥补了临床及生化诊断的不足,为WD的基因诊断提供了重要的新手段。
Polymorphuic microsatellites markers at D13 S301, D13S133 and D13S314 can be amplified by polymerase chain reaction and the alleleidentifications of these loci can be performed with denatuxing polyaCrylandde gel electrophotdsis. The variability of allele length at these loci makes them valuable for carrier detection and presylnptomatic diagnosis. In this study, we studied haplotypes of these markersin 82 individuals of 12 families with WD and founded 25 carriers, 18 normals and 2 presymptornatic patients. These findings have important implications for molecular diagnosis in the families with WD.
出处
《中国神经精神疾病杂志》
CSCD
北大核心
1996年第1期1-3,共3页
Chinese Journal of Nervous and Mental Diseases
基金
国家自然科学基金
福建省教委科研基金
关键词
肝豆状核变性
基因携带者
微卫星多态
早期诊断
Polymorphic microsatellite Wilson's disease Carrier Presymptomatic patient