胎盘儿茶酚-O-甲基转移酶单核苷酸多态性与子痫前期遗传易感性的关系研究

目的探讨胎盘中儿茶酚-O-甲基转移酶（COMT）单核苷酸多态性与子痫前期遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术,对138例子痫前期患者胎盘组织（子痫前期组）和126例正常晚期妊娠妇女胎盘组织（对照组）的COMT基因第4号外显子第158位密码子G与A的多态性进行分析,分析COMT单核苷酸多态性与子痫前期发生风险的关系。结果子痫前期组COMT基因型频率：野生型（GG）、杂合子（GA）、突变纯合子（AA）分别为58.7%、34.8%、6.5%,对照组分别为61.9%、33.3%、4.8%,两组比较差异无统计学意义（P〉0.05）。子痫前期组等位基因频率G、A分别为76.1%、23.9%,对照组分别为78.6%、21.4%,两组比较,差异无统计学意义（P〉0.05）。结论 COMT基因第158/108位密码子的单核苷酸多态性与子痫前期的发病及病情轻重程度无相关性。突变基因型并没有增加子痫前期的发病风险。

Research on the relationship between single nucleotide polymorphism of catechol-O-methyltransferase from placenta and susceptibility of preeclampsia

Objective To observe the relationship between single nucleotide polymorphism of catechol-O-methyhrans- ferase （COMT） from placenta and susceptibility of pre-eclampsia.Methods 158-G/A polymorphism of the fourth Exon of COMT gene from placenta tissues of 138 pregnant women with pre-eclampsia （the pre-eclampsia group） and 126 normal pregnant women （the control group） were measured by polymerase chain reaction-restrictive fragment length polymorphism （PCR-RFLP）.The relationship between single nucleotide polymorphism of COMT and pregnancy-induced hypertension were analyzed.Results The GG, GA,AA genotype frequency of CMOT in the pre-eclampsia group was 58.7%,34.8% and 6.5% respectively,while these rate in the control group was 61.9%,33.3% and 4.8% respectively,and the GG, GA,AA genotype rate of COMT had no significant difference between the pre-eclampsia group and the control group （P〉0.05）.G,A allele frequency of COMT in the pre-eelampsia group was 76.1% and 23.9% respectively,while these rate in the control group was 78.6% and 21.4% respectively,and the G,A allele frequency of COMT had no sig- nificantly difference between the pre-eclampsia group and the control group （P〉0.05）.Conclusion Single nucleotide polymorphism of 158/108 codon in COMT gene has no association with the incidence and severity of pre-eclampsia.