亚甲基四氢叶酸还原酶基因多态性与青海汉族妊娠期高血压疾病的相关性

目的 探讨亚甲基四氢叶酸还原酶（MTHFR）基因-677C/T（rs1801133）多态性与青海汉族妇女妊娠期高血压疾病（HDP）的相关性。 方法 选择青海省HDP患者 139 例（HDP组），正常妊娠孕妇 145 例（对照组），应用限制性内切酶片段长度多态性聚合酶链反应（PCR-RFLP）方法，检测HDP组和对照组MTHFR-677C/T多态性分型并测序验证。 结果 HDP组和对照组MTHFR基因CC、CT、TT基因型频率分别为54.68%、35.25%、10.07% 和69.66%、22.06%、8.28%，CC基因型频率HDP组54.68%低于对照组69.66%（P<0.05），CT基因型频率HDP组35.25%高于对照组22.06%（P<0.05），而TT基因型频率HDP组和对照组之间差异无统计学意义（P>0.05）；HDP组和对照组MTHFR-677C/T多态性C和T等位基因频率分布有差异（P<0.05），HDP组T等位基因频率高于对照组（χ²=5.568，P<0.05）。 结论 MTHFR基因-677C/T多态性与青海汉族HDP相关，MTHFR基因-677C/T多态性中T等位基因可能是HDP的易感基因，CT基因型为HDP的易感基因型。

Association between methylenetetrahydrofolate reductase polymorphisms and hypertensive disorders of pregnancy in Han nationality in Qinghai Province

Objective To investigate the association between polymorphisms of methylene tetrahydrofolate reductase (MTHFR)-677C/T (rs1801133) and hypertensive disorders of pregnancy (HDP) in Han women of Qinghai Province. Methods A total of 139 HDP subjects (HDP group) and 145 normal pregnant subjects (control group) were selected from Qinghai province. The MTHFR-677C/T polymorphism typing in HDP group and control was analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The mutation was confirmed by sequencing. Results The frequency of CC CT TT genotype of MTHFR gene in HDP group and control group were 54.68%，35.25%，10.07% and 69.66%，22.06%，8.28% respectively (P<0.05);The frequency of CC genotype (54.68%) in HDP group was lower than that(69.66%) in control group (P<0.05),the frequency of CT genotype ( 35.25%) in HDP group was higher than that (22.06%) in control group (P<0.05),there was no significant difference in the frequency of TT genotype between HDP group and control group (P>0.05);The frequency distribution of alleles C and T of MTHFR-677C/T polymorphisms were different between HDP group and control group (P<0.05),T allele frequency in HDP group was higher than that in control group(χ²=5.568，P<0.05). Conclusion The polymorphisms of MTHFR -677C/T is significantly correlated with hypertensive disorders of pregnancy of Han group in Qinghai Province. The T allele of MTHFR -677C/T polymorphism may be the susceptibility gene of HDP,CT genotype is the susceptibility genotype of HDP.