雌激素受体a基因PvuⅡ和XbaI多态性与子痫前期相关性研究

目的：研究雌激素受体Ot（ERa）基因PvuⅡ和XbaI酶切位点多态性，从遗传学角度探讨其在子痫前期（preeclampsia，PE）发生及发展中的作用，并筛选易感基因，为PE的诊断和治疗提供科学依据。方法：PE组为南京地区135例诊断为PE的患者，组内进一步分为轻度PE组（n=64）和重度PE组（n=71）；选取南京地区122例年龄、孕周与PE组均无统计学差异的正常孕妇作对照组。采用聚合酶链反应一限制性片段长度多态性（PCR-RFLP）技术检测ERa基因PvuⅡ和XbaI酶切位点的多态性。结果：（1）ERa基因PP、Pp、pp基因型实验组分别为20例（14．81％）、62例（45．93％）、53例（39．26％），其中轻度PE组分别为12例（18．75％）、27例（42．19％）、25例（39．06％），重度PE组分别为8例（11．27％）、35例（49．29％）、28例（39．44％）；对照组分别为13例（10．65％）、44例（36．07％）、65例（53．28％）。等位基因P、P实验组分别为102例（37．78％）、168例（62．22％），其中轻度PE组分别为51例（39．84％）、77例（60．16％），重度PE组分别为51例（35．92％）、91例（64．08％）；对照组分别为70例（28．69％）、174例（71．31％）。ERa基因PvuⅡ酶切位点的基因型分布PE组与对照组之间及PE组组内差异均无统计学意义（组间P=0．077，PE组组内P=0．440）；等位基因频率分布PE组与对照组之间比较差异有统计学意义（P=0．029），但PE组组内比较差异无统计学意义（P=0．506）。（2）ERa基因XbaI酶切位点基因型（XX、Xx、XX）及等位基因（X，X）频率分布在PE组与对照组之间及PE组组内差异均无统计学意义（组间：基因型P=0．736，等位基因P=0．602；组内：基因型P=0．152，等位基因P=0．172）。结论：（1）ERa基因PvuⅡ酶切位点多态性与PE的发生存在一定的相关性，P等位基因可能是其危险因素，携带P等位基因的孕妇可能更易发展成为PE。（2）ERa基因XbaI酶切位点多态性与PE的发生无明显关联。（3）ERa基因的PvuⅡ及XbaI酶切位点多态性与PE的病变程度无明显相关。

Study on the relationship between of estrogen receptor a gene Pvu H,Xba I polymorphisms and preeclampsia

Objective： To study the relationship between ERa gene polymorphisms and preeelampsia （PE）,screen the predisposing genes from a heredity angle to provide a scientific support in precaution of PE. Methods： ERa gene Pvu Ⅱ and Xba I polymorphisms were studied in 135 PE pregnant （PE group） and 122 healthy preg- nant women （control group） by polymerase chain reaction and restriction fragment length polymorphism （PCR- RFLP）. PE group was divided into mild preeclampsia group（64 cases） and severe preeclampsia group（71 cases）. Results： PE group had 20（ 14.81% ） women with PP genotype, 62（45.93% ） women with Pp and 53（39.26% ） women with pp. The mild preeclampsia group had 12（18.75% ） women with PP genotype, 27（42.19% ） women with Pp and 25（39.06% ） women with pp. The severe preeclampsia group had 8（ 11.27% ） women with PP geno- type, 35（49.29% ） women with Pp and 28 （39.44%） women with pp. The control group had 13 （10.65%） women with PP genotype, 44（36.07% ） women with Pp and 65（53.28% ） women with pp. The PE group had 102 （ 37.78% ） allele of P and 168 （62.22%） of p. The mild preeclampsia group had 51 （39.84%） allele of P and 77 （60.16%） of p. The severe preeclampsia group has 51 （35.92%） allele of P and 91 （64.08%） of p. The control group had 70 （28.69%） of P and 174（71.31% ） of p. There was no significant difference in the distribution of genotype between PE and control group （ P = 0. 077 ） , and between mild preeclampsia group and severe preeclamp- sia group （P = 0. 440）. There was a statistical significance in the distribution of allelic frequency between PE and control group （ P = 0. 029 ） , but no significant difference between mild and severe preeclampsia group （ P = 0. 506）. The Xba I polymorphism of ERa gene had no statistical significance both in distribution of genotype and al- lelic frequency between the PE and control group, and between mild and severe preeclampsia group （both P 〉 0.05）. Conclusions： （ 1 ） The Pvu Ⅱpolymorphism of ERc~ gene has some relationship with the occurance of PE. The allele of P may be a risk factor of PE. The P carrier may be easier to become PE patient when pregnant. （2） There is no obvious association of Xba I polymorphism with PE. （3） The Pvu Ⅱ and Xba I polymorphism of ERc~ gene has no relationship with the severity of PE.