【摘要】 目的探讨妊娠期高血压疾病的分子遗传学机制。方法采用聚合酶链反应—限制性内切酶片段长度多态性技术(PCR-RFLP)分别检测87例妊娠期高血压疾病患者(观察组)和175例正常人(对照组)血管紧张素Ⅱ-1型受体(AT1R)基因A1166-C和醛固酮合成酶(CYP11B2)基因-344 T/C突变位点基因型。基因型及等位基因患妊娠期高血压疾病的风险率以比数比(OR)与95%可信区间(95%CI)表示。结果观察组中AT1R基因的AC基因型频率为33.3%,C等位基因频率为17.2%,相对于AA基因型、A等位基因,OR值分别为1.803、1.711;CYP11B2基因的TC和CC基因型频率分别为40.2%和17.2%,C等位基因频率为37.4%,相对于TT基因型、T等位基因,OR值分别为1.577、6.081、2.114;AT1R和CYP11B2联合基因型分析显示,相对于AA-TT联合基因型,同时携带AC-TC、AA-CC、AC-CC联合基因型的OR值分别为2.407、6.296、7.870。结论AT1R基因1166C和CYP11B2基因-344C点突变的等位基因可能增加妊娠期高血压疾病的遗传易感性;二者可能共同参与妊娠期高血压疾病的发生。更多还原

【Abstract】 Objective To investigate the relationship between polymorphism of A(1166)C angiotensin Ⅱ type 1 receptor(AT1R) genes and-344T/C aldosterone synthase(CYP11B2) gene in patients with hypertensive disorder complicating pregnancy.Methods 87 patients with hypertensive disorder complicating pregnancy and 175 normal controls were collected.The genotype for A(1166)C of AT1R and-344T/C of CYP11B2 were determined by polymerase chain reaction(PCR) and restriction fragement length polymorphism(RFLP)respectively.Results In case,odds ratios(OR) calculated for those exposed to AC genetype,C allele was 1.803,1.711 respectively in AT1R gene;OR calculated for those exposed to TC genotype frequency,CC genotype frequency and C allele was 1.577,6.081 and 2.114 in CYP11B2 gene;In the same case,the OR of combinational AC-TC gene,AA-CC gene and AC-CC gene was 2.407,6.296 and 7.870 respectively.There is no statistical difference in the other combination genes(P>0.05).Conclusion The site mutation allele gene of AT1R(1166C) and CYP11B2(-344TC)might increase the susceptibility of hypertensive disorder complicating pregnancy,which may play an important role in the development of hypertensive disorder complicating pregnancy.更多还原