D17S1878位点多态性与原发性高血压的连锁分析

Linkage Analysis of the Polymorphism at D17S1878 Site with Essential Hypertension

目的探讨D17S1878位点多态性是否与高血压易感基因存在连锁。方法在高血压高发区收集45个原发性高血压家系的流行病学资料,通过PCR扩增及遗传分析仪确定D17S1878位点的多态分布,应用表型不一致同胞对病例—对照研究和受累同胞对的方法分析该位点与原发性高血压易感基因的连锁关系。结果高血压受累同胞与非高血压受累同胞相比,年龄、男性、饮酒、嗜盐、平均收缩压、平均舒张压、腰臀比值、总胆固醇、高密度脂蛋白、低密度脂蛋白均显著高于非高血压受累同胞(P<0·05)。D17S1878多态性位点共有11个等位基因,其在家系中高血压者与非高血压者的分布差异具有显著性(P<0·05)。符合受累同胞对分析条件的有43个家系,检验结果为:t=3·05,P<0·05,即该位点的传递一致性比预期值大。结论在原发性高血压家系中发现D17S1878多态性位点可能与原发性高血压的易感基因存在连锁。

Objective To explore the linkage of the polymorphism at D17S1878 site with susceptible gene of essential hypertension. Methods Forty-five pedigrees from the high prevalence region of the hypertension were collected. The polymorphism of D17S1878 site was genotyped with genetic analyzer and genescan software. Discordant sib pair analysis and affected sib pair analysis were used in linkage analysis. Results There were significant differences in the age, male, alcohol-consuming, over-salt intaking, average systolic pressure, average diastolic pressure, waist-to-hipratio, total cholesterol, high-density lipoprotein, and low density lipoprotein between the hypertensive sib and the normotensive sib （ P 〈 0.05 ）. There were eleven alleles at D17S1878 site, and the allele frequency was significantly different between the hypertensive and normotensive sibs （ P 〈 0.05 ）. Forty-three pedigrees were analyzed with affected sib pair analysis （ t = 3.05 , P 〈 0. 05 ）. Conclusion The polymorphism of D17S1878 may be linked with susceptible genes of essential hypertension.