论文部分内容阅读
目的:研究雌激素受体α(ERα)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-限制性片段长度多态性(PCR-RFLP)技术检测ERα基因PvuⅡ和XbaⅠ酶切位点的多态性。结果:(1)ERα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%)。ERα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)ERα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)ERα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)ERα基因XbaⅠ酶切位点多态性与PE的发生无明显关联。(3)ERα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。
Objective: To study the polymorphisms of Pvu Ⅱ and Xba Ⅰ restriction sites of estrogen receptor α (ERα) gene and to explore its role in the genesis and development of preeclampsia (PE) from a genetic point of view, and to screen the susceptibility genes , To provide a scientific basis for the diagnosis and treatment of PE. Methods: One hundred and thirty-five patients with PE diagnosed in Nanjing were enrolled in this study. PE was further divided into mild PE group (n = 64) and severe PE group (n = 71) The group of normal pregnant women without statistical difference as the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphisms of ERα gene PvuⅡand XbaⅠ. Results: (1) There were 20 cases (14.81%), 62 cases (45.93%) and 53 cases (39.26%) in the ERα gene PP, Pp, , 27 cases (42.19%) and 25 cases (39.06%). The severe PE group was 8 cases (11.27%), 35 cases (49.29%) and 28 cases (39.44% 10.65%), 44 cases (36.07%) and 65 cases (53.28%). There were 102 cases (37.78%) and 168 cases (62.22%) in the experimental group of P and P alleles, respectively. There were 51 cases (39.84%) and 77 cases 51 cases (35.92%) and 91 cases (64.08%). The control group were 70 cases (28.69%) and 174 cases (71.31%) respectively. Genotype distribution of ERα gene Pvu Ⅱ restriction site There was no significant difference between PE group and control group and between PE group (P = 0.077, P = 0.440 in PE group); allele frequency distribution The difference between the PE group and the control group was statistically significant (P = 0.029), but there was no significant difference between the PE group and the control group (P = 0.506). (2) There was no significant difference in frequency distribution of Xba Ⅰ genotype (XX, Xx, xx) and allele (X, x) of ERα gene between PE group and control group and PE group Between groups: genotype P = 0.736, allele P = 0.602; intragroup: genotype P = 0.152, allele P = 0.172). CONCLUSION: (1) The Pvu Ⅱ restriction site polymorphism of ERα gene has some correlation with the occurrence of PE. The P allele may be the risk factor. Pregnant women with P allele may be more likely to develop PE. (2) There was no significant association between ERα gene Xba Ⅰ restriction site polymorphism and the occurrence of PE. (3) There was no significant correlation between the polymorphism of Pvu Ⅱ and Xba Ⅰ restriction sites of ERα gene and the severity of PE.