胱硫醚β-合酶基因C572T突变与妊娠期高血压疾病的相关性

Study on gene mutations of cystathionine β-synthase in patients with pregnancy-induced hypertension

目的:探讨同型半胱氨酸(Hcy)代谢相关酶胱硫醚β-合酶(CBS)基因C572T突变与妊娠期高血压疾病发病的相关性。方法:采用等位基因特异性扩增(ASA)技术检测63例妊娠期高血压疾病患者和32例孕期经过顺利的正常孕妇(对照组)CBSC572T基因型,并用酶联免疫分析法(ELISA)测血浆Hcy。结果:妊娠期高血压疾病组CBS基因C572TT/T、C/T和C/C型突变频率分别为4.76%、84.13%和11.11%;对照组分别为3.13%、87.50%和9.37%;妊娠期高血压疾病组C等位基因频率为53.17%、T等位基因频率为46.83%,对照组分别为53.13%和46.87%,二者比较,差异无统计学意义(P>0.05)。结论:CBSC572T基因突变与妊娠期高血压疾病无明显相关性,其基因突变不足以构成妊娠期高血压疾病发病的遗传危险因素。

Objective： To study the effect of gene mutation of Cystathionine beta - synthase in patients with pregnancy - induced ,hypertension. Methods： 63 patients with pregnancy - induced hypertension and 32 healthy pregnant women were recruited. Homocysteine concentration was determined by enzyme - linked immunosorbent assay （Elisa） ; C572T genotypes were detected by the technique of Allelespecific amplification （ASA） . polymerase chain. Results： The frequency of T/T was accounted for 4. 76%, C/T for 84. 13%, C/C for 11.11% among the patients; 3.13%, 87. 50%, 9. 37%, respectively among the control subjects. The frequency of T alleles was not significant difference between patients and normal controls. Conclusion： There is not significant correlation between C572T and pregnancy - induced hypertension, CBS C572T may not be independent risk factor for patients with pregnancy - induced hypertension in Guangxi.