[亚甲基四氢叶酸还原酶基因C677T突变及其与山东汉族人群深静脉血栓形成倾向的关联]
[The C677T mutation in the methylenetetrahydrofolate reductase gene and its association with deep vein thrombophilia in Shandong Hans].
作者信息
Guo Chenhong, Guo Qiongxing, Gong Yaoqin, Chen Bingxi, Liu Qiji, Li Jiangxia, Gao Guimin, Zhou Haibin
机构信息
Department of Medical Genetics, Medical School of Shandong University, Jinan, Shandong, 250012 P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Aug;19(4):295-7.
OBJECTIVE
To study the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T genotype and its association with deep vei n thrombophilia in Chinese.
METHODS
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was conducted to examine mutation with 63 deep vein thrombophilic patients and 80 health controls in Shandong Hans. The genotype frequencies were calculated by gene counting in patients and controls, and an analysis was made on the association of MTHFR C677T mutation with deep venous thrombosis in Shandong Hans.
RESULTS
In case- controls, the frequencies of C/T heterozygote were 41.27% and 43.75%; whereas those of T/T homozygote were 52.38% and 36.25%. Significantly elevated mutation was observed in patients(Chi-square=6.372, P 0.01 OR(T/T)=4.552 95% confidence interval:1.440-14.390, Chi-square =6.742 P=0.009).
CONCLUSION
The C677T mutation of methylenetetrahydrofolate reductase gene is a risk factor associated with deep vein thrombophilia in Shandong Hans.
目的
研究亚甲基四氢叶酸还原酶（MTHFR）C677T基因型在中国人群中的分布及其与深静脉血栓形成倾向的关系。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法，对63例山东汉族深静脉血栓形成倾向患者和80例健康对照者进行突变检测。通过基因计数法计算患者和对照者的基因型频率，并分析MTHFR C677T突变与山东汉族深静脉血栓形成的相关性。
结果
病例组和对照组中，C/T杂合子频率分别为41.27%和43.75%；T/T纯合子频率分别为52.38%和36.25%。患者组突变率显著升高（χ²=6.372，P<0.01；OR（T/T）=4.552，95%置信区间：1.440-14.390，χ²=6.742，P=0.009）。
结论
亚甲基四氢叶酸还原酶基因C677T突变是山东汉族人群深静脉血栓形成倾向的一个危险因素。
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