| 唐慧荣,马举娟,陈瑞祥.亚甲基四氢叶酸还原酶基因 C677T多态性与同型半胱氨酸水平的相关性[J].安徽医药,2020,24(6):1221-1224. |
| 亚甲基四氢叶酸还原酶基因 C677T多态性与同型半胱氨酸水平的相关性 |
| Polymorphism of methylenetetrahydrofolate reductase gene C677T and its correlation with homocysteine |
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| DOI：10.3969/j.issn.1009?6469.2020.06.041 |
| 中文关键词: 亚甲基四氢叶酸还原酶( NADPH) 多态性，单核苷酸 芯片分析技术 同型半胱氨酸 |
| 英文关键词: Methylenetetrahydrofolate reductase(NADPH2) Polymorphism,single nucleotide Microchip analytical proce? dures Homocysteine |
| 基金项目:云南省科研厅项目［ 2018FF001(?062)］ |
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| 中文摘要: |
| 目的探究 985例云南地区人群亚甲基四氢叶酸还原酶( MTHFR)C677T基因多态性与同型半胱氨酸( Hcy)水平的相关性。方法选取 2018年 1月至 2019年 3月就诊于云南省第三人民医院并进行 MTHFR C677T基因检测的 985例汉族人群(包括住院病人 559例、体检人群 426例)作为研究对象，将所有研究对象按照基因型分为 CC、CT、TT三组。采用 PCR?芯片杂交法检测 MTHFR C677T基因型。结果男性 CC、CT、TT基因型分布频率与女性比较差异无统计学意义( P＞0.05)。三种基因型在不同年龄组中分布差异无统计学意义( P＞0.05)。 985例研究对象 Hcy检出最高浓度为 86.40 mmol/L，最低浓度为 5.00 mmol/L，均为 CT基因型。三种基因型 Hcy浓度为 13.50(5.55，21.45)mmol/L，其中 CC基因型 Hcy水平为 12.30(6.73，17.87) mmol/L，CT基因型 Hcy水平为 12.68(7.20，18.16)mmol/L，TT基因型 Hcy水平为 19.04(4.11，42.19)mmol/L，TT基因型 Hcy水平高于 CC和 CT，差异有统计学意义( P＜0.001)CC和 CT基因型的 Hcy水平差异无统计学意义( P＞0.05)。结论 985例云南地区人群 MTHFR C677T基因多态性与 Hcy水平具，有相关性， TT基因型可能为高 Hcy血症的危险因素。 |
| 英文摘要: |
| Objective To explore the relationship between MTHFR C677T gene polymorphism and homocysteine(Hcy)level of 985 people from Yunnan Province.Methods Nine hundred and eighty?five Han patients(including 559 hospitalized patients and 426 physical examination patients)who were treated in the Yunnan Third People’s Hospital from January 2018 to March 2019 andtested for the MTHFR C677T gene were selected for the study subjects.All subjects were assigned into CC，CT and TT groups ac? cording to genotype.Chain reaction(PCR)?chip hybridization was used to detect the MTHFR C677T genotype.Results There was no significant difference in the frequency of genotype CC，CT and TT between men and women(P＞0.05).There was no significant difference in the distribution of three genotypes in different age groups(P＞0.05).The highest concentration of Hcy detected in 985 subjects was 86.40 μmol/L and the lowest concentration was 5.00 μmol/L，and both were CT genotypes.The mean Hcy level of three genotypes was 13.50(5.55，21.45)mmol/L.Hcy level of CC genotype was 12.30(6.73，17.87)μmol/L，CT genotype Hcy lev? el was 12.68(7.20，18.16)μmol/L，TT genotype Hcy level was 19.04(4.11，42.19)μmol/L.The Hcy level of TT genotype was higher than CC and CT，and the difference was statistically significant(P＜0.001).There was no significant difference in Hcy lev? els between CC and CT genotypes(P＞0.05).Conclusion The polymorphism of MTHFR C677T gene is correlated with Hcy lev? els in 985 cases from Yunnan Province，and TT genotype may be a risk factor for hyperhomocysteinemia. |
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