微卫星DNA对常染色体显性多囊肾病的诊断价值

Value of microsatellite DNA in diagnosis of autosomal dominant polycystic kidney disease

目的:探讨微卫星DNA连锁分析对常染色体显性遗传性多囊肾病(ADPKD)的诊断价值。方法:提取多囊肾病家系成员外周血和胎儿绒毛膜绒毛DNA,运用荧光PCR法扩增与PKD1紧密连锁的4个微卫星DNA(SM6、KG8、CW4、CW2)遗传标志,将扩增产物进行毛细管电泳-基因扫描,通过基因连锁分析和单体型分析对ADPKD家系共27例(包括1例胎儿)进行致病基因检测。结果:27例家系成员中检出了1例18岁个体为PKD1基因携带者,无临床症状,处于囊肿发生前期;产前诊断结果显示胎儿未获得致病基因。结论:微卫星DNA具有高度多态性,在同一家系内具有高度的遗传保守性,该技术在ADPKD的症状前基因检测和产前诊断中简便、快速、灵敏。

Objective: To explore the value of microsatellite DNA linkage analysis in diagnosis of autosomal dominant polycystic kidney disease( ADPKD). Methods: Genomic DNA was abstracted from peripheral blood of family members with polycystic kidney disease and chorionic villi of the fetuses,fluorescent PCR was used to amplify genetic markers of four microsatellite DNA( SM6,KG8,CW4,CW2) closely related to PKD1,the amplification products were examined by capillary electrophoresis- gene scanning,gene linkage analysis and haplotyping were used to detect pathogenic gene among 27 family members of ADPKD( including one fetus). Results: Among 27 family members,one 18- year- old case was found carrying PKD1 gene without clinical symptoms,the case was found in early stage of polycystic kidney disease; the results of prenatal diagnosis showed that the fetus didn't obtain pathogenic gene. Conclusion: Microsatellite DNA has high polymorphism and high hereditary conservation in the same family,which is simple,rapid and sensitive in presymptomatic diagnosis and prenatal diagnosis of ADPKD.