用与PKD2紧密连锁的微卫星DNA对2型常染色体显性多囊肾病进行基因诊断

Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2

目的 应用DKD2紧密连锁的微卫星DNA对 2型染色体显性多囊肾病进行基因诊断。方法应用聚合酶链反应 毛细管电泳 基因扫描方法对PKD2基因侧翼微卫星D4S15 3 4、D4S15 42、D4S15 63、D4S2 460和D4S42 3进行基因分型 ,对常染色体显性多囊肾病家系成员进行连锁分析 ,确定患病家系是否与PKD2连锁 ,并对未发病成员进行基因诊断。结果 通过连锁分析 2 0个家系 ,寻找到 3个与PKD2连锁的多囊肾病家系 ;在 3个家系的 4名未发病成员中发现 2例携带PKD2基因突变的症状前个体。结论 连锁分析是多囊肾病异质性研究和基因诊断的一种快速、简便的方法。

Objective To use microsatellite DNA tightly linked to polycystic kidney disease gene 2 in the gene diagnosis of autosomal dominant polycystic kidney disease type 2. Methods Microsatellite DNA of D4S1534,D4S1542,D4S1563,D4S2460 and D4S423 were amplified with PCR and the fragments of products were analyzed by capillary electrophoresis and Genescan and Genotyper software, and then gene diagnosis of the pedigrees was made by linkage analysis. Results Three families were found to be linked to PKD2 in 20 families. Two carriers of PKD2 mutation were revealed by linkage analysis. Conclusion Gene diagnosis can be done for PKD2 mutation carriers prior to cytogenesis. Linkage analysis is a rapid, simple method for studying the heterogeneity of polycystic kidney disease and for diagnosing the disease at the molecular level.