【摘要】 目的研究社区汉族人群中亚甲基四氢叶酸还原酶(Methylenetetra-hydrofolate reductase,MTHFR)基因型的分布特征,进一步探讨社区人群中MTHFR C677T基因突变与大脑中动脉狭窄(middle cerebralartery stenosis,MCAS)是否关联。方法整群抽取汉族成年居民1146人,记录其病史资料,并行经颅多普勒(transcranial doppler,TCD)检查。采用聚合酶链反应-限制性内切酶片段长度多态性技术(polymerase chainreaction-restriction fragment length polymorphism,PCR-RFLP)鉴定目标人群MTHFR 677位基因型。结果 1146例居民中MTHFR 677位点C/C野生型占60.6%、T/C杂合型占34.1%、T/T纯合突变型占5.3%,C等位基因占77.6%,T等位基因占22.4%。MCAS组与非MCAS组的等位基因频率分布存在统计学差异(掊2=6.828,P<0.01)、两基因型联合对比(T/C+T/T与C/C:掊2=4.602,P<0.05)及T/T与C/C比较(掊2=5.320,P<0.05)差异也有统计学意义,但T/C与C/C比较(掊2=2.590,P>0.05)无统计学差异;logistic回归显示T/T基因型会增加患MCAS的风险(OR=3.393,95%CI 1.230～9.357)。结论中国社区汉族人群中存在MTHFR C677T基因突变;MTHFR C677T突变存在种族和地域的差异。MTHFR C677T基因多态性与MCAS风险增加有关。更多还原

【Abstract】 Objective To investigate the distribution of Methylenetetrahydrofolate reductase(MTHFR) genotypes of Han people in community,and then to explore the relationship between MTHFR C677T polymorphisms and middle cerebral artery stenosis.MethodsOne thousand and one huandard fourty-six adult Han people were selected by cluster sampling from the residential communities.Medical history was collected and transcranial Doppler(TCD) examination was performed.Polymerase chain reaction-restriction fragment length polymorphism was used to detect MTHFR 677 genotypes and SPSS 18.0 was used for data analysis.ResultsThe frequency of C/C wild genotype was 60.6%;T/C heterozygous mutant genotype was 34.1%;T/T homozygous mutant genotype was 5.3%;the C allele frequency was 77.6% and the T allele frequency was 22.4%.There was significant difference at distribution between the MCA stenotic and un-stenotic group of allele frequencies(χ2 = 6.828,P < 0.01),and the two genotypes(T/C+T/T and C/C: χ2 = 4.602,P < 0.05).There was significantly difference at the genotype T/T and C/C(χ2 = 5.320,P < 0.05) but not at genotype T/C and C/C(χ2 = 2.590,P > 0.05)between the groups,The logistic regression analysis showed that the TT genotype was associated with an increased risk for MCAS(OR = 3.393;95% CI 1.230～9.357).Conclusions ① There is a genetic polymorphism of MTHFR C677T in the Han people of community in China.② The frequency of MTHFR C677T polymorphism is dissimilar in different races and regions.③ The C677T polymorphism of the MTHFR gene is associated with increased risk of MCAS.更多还原