中国卒中杂志2012，Vol.7Issue(4)：271-277,7.
亚甲基四氢叶酸还原酶基因多态性与血浆同型半胱氨酸水平及青年急性缺血性卒中的相关性研究
Correlational Study Among the Polymorphism of MTHFR Gene, the Plasma tHcy Levels and Acute Ischemic Stroke in Young Adults
摘要
Abstract
Objective To investigate the correlation among the metabolizing enzymes MTHFR of the homocysteine(Hcy), tHcy levels and acute ischemic stroke in young adults. Methods Case-control method, 40 cases of acute ischemic stroke in young adults and 40 healthy persons were analyzed, we recorded their medical history and relevant laboratory examination data, measured the plasma tHcy levels with high performance liquid chromatography, determined the polymorphism of MTHFR C677T, A1298C by polymerase chain-restriction fragment length polymorphism(PCR-RFLP). Results ① The mutation rate and the T allele frequency of MTHFR C677T in case group were 77.5% and 53.8%, control group were 75.0% and 50.0%, and the change rate was no statistically significant between the two groups(P>0.05). ②The mutation rate and the C allele frequency of MTHFR A1298C in case group were 32.5% and 17.5%, control group were 17.5% and 8.8%, and the change rate was no statistically significant between the two groups(P>0.05). ③The distribution difference of the plasma tHcy concentration during the MTHFR C677T genotypes was statistically significant(P<0.05). Conclusions ① The gene polymorphism of Hey metabolism enzymes MTHFR C677T, A1298C was confirmed. ②The gene mutation(especially the TT homozygous) of MTHFR C677T can increase the plasma tHcy concentration significantly. ③There is no direct correction between the gene polymorphism of MTHFR C677T, A1298C and acute ischemic stroke in young adults.关键词
同型半胱氨酸/卒中,青年/基因,多态性Key words
Homocysteine/ Stroke, young adults/ Gene, polymorphism引用本文复制引用
张鹏,郭旭,毕齐..亚甲基四氢叶酸还原酶基因多态性与血浆同型半胱氨酸水平及青年急性缺血性卒中的相关性研究[J].中国卒中杂志,2012,7(4):271-277,7.基金项目
首都医科大学附属北京安贞医院院长科技发展基金(2009C02) （2009C02）
