成都地区重度子痫前期患者雌激素受体α基因PvuⅡ和XbaⅠ多态性的研究  

The Pvu Ⅱ and Xba Ⅰ polymorphisms in the estrogen receptor α gene in Chinese patients with severe preeclampsia

作　　者：张娟[1] 白怀[1] 刘兴会[2] 范平[1] 刘瑞[3] 何国琳[2] 

机构地区：[1]四川大学华西第二医院实验中心,成都610041 [2]四川大学华西第二医院妇产科,成都610041 [3]华西医院人类疾病相关多肽研究室

出　　处：《中华医学遗传学杂志》2009年第1期40-44,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（39770322）;四川大学华西第二医院科研启动基金

摘　　要：目的探讨雌激素受体α（estrogen receptor，ESRα）基因变异是否与重度子痫前期发病有关联。方法采用聚合酶链反应-限制性片段长度多态性分析法对成都地区131例重度子痈前期患者和223名健康孕妇ESRα基因PvuⅡ和XbaⅠ多态性进行分析。结果ESRα基因PvuⅡ位点T、C等位基因的频率在重度子痫前期组为0．580、0．420，在正常孕妇组为0．576、0．424；XbaⅠ位点A、G等位基因的频率在重度子痫前期组为0．763、0．237，在正常孕妇组为0．807、0．193。上述位点在两组间等位基因的频率差异均无统计学意义（P〉0．05）。经调整年龄和体重指数因素后，正常孕妇组PvuⅡ位点T等位基因携带者（TT或TC基因型者）收缩压水平显著高于CC纯合型者[（114.00±1．44）mmHg或（114．33±1．21）mmHg vs （108．62±1．91）mmHg，P〈0．05]；未见重度子痫前期组该位点对血压水平存在影响。也未见正常孕妇组和患者组XbaⅠ位点与血压水平有关联。结论ESRa基因PvuⅡ和XbaⅠ多态性与成都地区汉族人重度子痫前期的发病无关联，但PvuⅡ多态性与正常妊娠妇女的收缩压水平有关。Objective To assess the allele and genotype frequencies of the estrogen receptor α （ESRα） Pvu Ⅱ and Xba Ⅰ polymorphisms in patients with severe preeclampsia and compare them with those of normal pregnant women. Methods Blood samples from 131 patients with severe preeclampsia and 223 normal pregnant women from Chinese Han in Chengdu area were analyzed, using PCR RFLP method. Pregnant patients with blood pressure exceeding 140/90 mmHg （or 18. 7/12 kPa） were recruited with a strict definition of preeclampsia. Genotyping was performed using PCR-RFLP for Pvu Ⅱ and Xba Ⅰ polymorphisms in the ESRa gene. Results The T and C allele frequencies for Pvu Ⅱ site were 0. 580 and 0. 420 in the patient group, and 0. 576 and 0. 424 in the controls, respectively. The A and G allele frequencies for Xba Ⅰ site were 0. 763 and 0. 237 in the patient group, and 0. 807 and 0. 193 in control group, respectively. No significant difference in the allele frequencies of either site was observed between the two groups. However, the CC homozygotes or CT heterozygotes in the control pregnant women had higher systolic blood pressure levels than TT homozygotes for Pvu Ⅱ site after the data was adjusted for age andBMI （114. 00±1. 44 mmHgor 114.33±1. 21 mmHg vs. 108. 62±1. 91 mmHg,P〈0.05）. No genotype effect on the blood pressures was found for Pvu Ⅱ site in the case group, nor for Xba Ⅰ site in either group. Conclusion Our work has excluded the association of the ESRα Pvu Ⅱ and Xba Ⅰ polymorphism with severe preeclampsia in a Southwest Chinese population, although this polymorphism may be associated with the systolic blood pressure level in the normal pregnant women.

关 键 词：妊娠高血压疾病 重症子痫前期 雌激素受体Α基因 遗传多态性 

分 类 号：R686[医药卫生—骨科学]