同型半胱氨酸及胱硫醚β-合酶基因多态性与广西百色地区　妊娠期高血压疾病的相关性研究

Polymorphism of cystathionine β synthase gene and plasma homocysteine level in patients with hypertensive disorder complicated pregnancy in Baise population

目的:初步探讨同型半胱氨酸(Hcy)及其代谢酶-胱硫醚β-合酶(CBS)基因G919A多态性与广西百色地区妊娠期高血压疾病(HDP)形成的相关性。方法:等位基因特异性扩增法及酶联免疫分析法(ELISA)检测61例HDP患者(病例组)及50例正常人(对照组)CBS G919A基因型及血浆Hcy水平。结果:CBS G919A出现G/G、G/A两种基因型,病例组G/G、G/A型频率及A等位基因频率分别为32.79%、67.21%及33.61%,对照组分别为36.00%、64.00%及32.00%,两组基因型频率及A等位基因频率均无统计学差异(P>0.05);病例组血浆Hcy水平(11.36±3.45)μmol/L,较对照组(7.92±2.26)μmol/L明显升高(P<0.01),两组间各基因型Hcy水平比较,差异均有统计学意义(P<0.01),但两组内各基因型Hcy均无统计学差异(P>0.05)。结论:CBS G919A基因多态性与广西百色地区HDP发病无明显相关性,该位点基因突变可能并不足以构成该地区HDP发病的独立遗传风险因素,但高同型半胱氨酸血症(HHcy)与该地区HDP发病有一定关系。

Objective：To study the effect of the polymorphism of cystathionine β-synthase gene（CBSG919A） and plasma homocysteine concentration in patients with hypertensive disorder complication pregnancy（HDP）.Methods：61 patients with HDP and 50 healthy pregnant women were detected the G919A genotypes by the technique of PCR and the plasma homocysteine concentration by the method of ELISA..Results：The frequency of G/G was accounted for 32.79%,G/A for 67.21%,among the patients;36%,64%,respectively among the control subjects.The frequency of genotypes and A alleles were not significantly different between the patients and normal controls（P0.05） and plasma homocysteine concentration was significantly higher in the patients than that in normal controls（P0.01）.Conclusion：There is not significant correlation between G919A and HDP,CBS G919A may not be independent risk factor for HDP but hyperhomocysteinemia may be closely correlated with HDP in Baise population.