17染色体微卫星多态单倍型/基因型与原发性高血压

目的 探索D17S1878和D17S932多态单倍型/基因型与高血压易感基因的关系.方法 在高血压高发区收集67个原发性高血压家系的流行病学资料,应用遗传分析仪分析D17S1878、D17S932位点的多态性,应用PHASE2.1软件进行两位点的单倍型构建,受累同胞对分析用于两位点与高血压的连锁分析.结果 高血压家系人群的D17S1878和D17S932位点共有61个单倍型,其中频率最高(10.03%)的单倍型(CA)1B/(CA)11在病例组和对照组中的分布存在统计学意义(P＜0.05).符合受累同胞对分析条件的组成67个受累同胞对,两位点连锁分析结果,t值分别为1.88和3.95,P＜0.05,显示两位点的传递一致性比预期值(25%)大.结论 在原发性高血压家系中,D17S1878和D17S932多态性位点可能与原发性高血压的易感基因存在连锁.

Polymorphisms of D17S1878 and D17S932 on the Chromesome 17 and risk of essential hypertension

Objectives To identify the possible relationship between polymorphisms of D17S1878 and D17S932 on the Chromosome 17 and risk of essential hypertension (EH).Methods The polymorphisms of D17S1878 and D17S932 were genotyped using Genetic Analyzer in 325 subjects from 67 Chinese families with EH in Liauning province.The polymorphisms of D17S1878 and D17S932 sites were genotyped using Genetic Analyzer and GeneSean Software;PHASE2.1 Software was used in hyplotype analysis and affected sib pair analysis was used in linkage analysis.Results 61 hyplotypes were found in the study population with 272 hypertensive and 53 normotensive subjects and the frequency of haplotype H1 (CA)18/(CA)11] in the hypertensive (15.4%) was significantly higher than that in the normotensive (6.3%,P＜0.05).Affected sib pair analysis could be applied in 180 subjects,the t values of the D17S1878 and D17S932 were 1.88 and 3.95,respectively (both P＜0.05) suggesting that the transitivity and consistency of the D17S1878 and D17S932 in sib pairs from the pedigrees were higher than expected (25%).Coneinsion The polymorphisms of D17S1878 and D17S932 were possibly linked with predisposing genes of essential hypertension.