儿茶酚-O-甲基转移酶基因多态性与妊娠高血压综合征关系的研究

目的　探讨儿茶酚 O 甲基转移酶 (COMT)基因第 15 8/ 10 8位密码子 ,从缬氨酸到蛋氨酸的错义突变多态性与妊娠高血压综合征 (妊高征 )的关系。方法　采用聚合酶链反应 限制性内切酶片段长度多态性 (PCR RFLP)技术 ,检测 10 2例妊高征患者 (妊高征组 )及 94例正常晚期妊娠妇女(对照组 )的COMT基因多态性位点频率 (两组孕妇的年龄及孕周相匹配 )。结果　妊高征组COMT基因型频率 :野生型 (HH)、杂合子 (HL)、突变纯合子 (LL)分别为 5 6 9%、38 2 %、4 9% ,对照组分别为 4 7 9%、4 3 6 %、8 5 %。两组比较 ,差异无显著性 (P >0 0 5 )。妊高征组COMT等位基因频率H、L分别为 76 0 %、2 4 0 % ,对照组分别为 6 9 7%、30 3%。两组比较 ,差异无显著性 (P >0 0 5 )。　结论COMT基因第 15 8/ 10 8位密码子从缬氨酸到蛋氨酸的错义突变多态性与妊高征的发病及病情轻重程度无相关。突变基因型并没有增加妊高征的发病风险。

Association between catechol-methyltransferase gene polymorphism and pregnancy induced hypertension

OBJECTIVE: The Catechol-o-methyltransferase (COMT) gene contains a common functional polymorphism at locus Val158/108Met. This study was to investigate the association between COMT gene polymorphism and pregnancy-induced hypertension (PIH). METHODS: One hundred and two pregnant women with PIH (PIH group) and 94 normal pregnant women (control group) matched for age and gestation were recruited. Participants were genotyped for COMT at the Val158/108Met locus using PCR-based restriction fragment length polymorphism (RFLP) method. RESULTS: The frequencies of COMT HH, HL and LL genotypes were 56.9%, 38.2% and 4.9% in PIH group, respectively. These were 47.9%, 43.6% and 8.5% in normal control group, respectively (P > 0.05). The frequencies of the two alleles H and L were 76.0% and 24.0% in PIH group, and 69.7% and 30.3% in control group, respectively (P > 0.05). CONCLUSION: The COMT G1947-->A gene polymorphism is not associated with the generation and the severity of PIH. The mutation genotype does not increase the risk of PIH.