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四川南充市健康体检者同型半胱氨酸代谢酶基因多态性分布及其水平关联

Journal of Public Health and Preventive Medicine(2021)

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Abstract
目的 研究南充市汉族人群同型半胱氨酸(Hcy)代谢关键酶基因多态性的分布及与Hcy水平的关联.方法以在南充市中心医院的汉族人群470人为研究对象,抽取受检者血样,收集研究对象一般临床资料,采用循环酶法测定血浆Hcy水平,提取基因组DNA后进行SNP基因多态性检测,分析Hcy代谢关键酶MTHFR C677T、MTHFR A1298C、MTR A2756G、MTRR A66G基因多态性分布情况及与Hcy水平的关系.结果高同型半胱氨酸血症(HHcy)检出率为34.68%,MTHFR C677T T等位基因增加HHcy患病风险,T等位基因人群患HHcy的风险是C等位基因的1.654倍,MTHFR C677T不同基因型的Hcy水平间差异有统计学意义(P<0.05),MTHFR C677T突变纯合型TT和杂合型CT分别增加HHcy患病风险2.977倍和1.917倍.结论MTHFR C677T杂合型CT和突变纯合型TT增加HHcy患病的风险.
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