皖南地区脑卒中人群MTHFR C677T基因多态性分布研究

目的:探讨皖南地区脑卒中人群中5,10-亚甲基四氢叶酸还原酶(MTHFR) C677T遗传基因多态性分布特征，分析皖南群体该基因分布特点，为皖南地区脑卒中的防治提供参考。方法:选取2018年1月至2019年10月我院脑卒中人群114例，利用荧光染色原位杂交分析技术对患者进行MTHFR C677T基因分型。检测MTHFR C677T位点基因型，用皖南地区脑卒中人群MTHFR C677T基因多态性分布数据，与已报道的中国其他地区汉族脑卒中人群基因分布数据进行比较。结果:114例患者中MTHFR C677T位点TT、CT、CC基因型频率分布为28.90%、50.00%、21.10%，C、T两个等位基因分布频率分别为53.95%、46.05%。该基因在皖南地区分布无性别差异，但CC型与重庆地区、黑龙江地区、广州地区比较，差异有统计学意义（P<0.05）。TT型与重庆地区、豫北地区、黑龙江地区比较，差异有统计学意义（P<0.05）。结论:皖南地区汉族脑卒中人群的MTHFR C677T基因多态性分布与其他地区之间比较存在差异，可通过基因检测技术为皖南地区高风险人群脑卒中防治提供科学依据。

Distributions of MTHFR C677T gene polymorphism among cerebral stroke patients in southern Anhui province

AIM: To investigate and analyze the distribution characteristic of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism among cerebral stroke patients and to provide prevention and treatment for stroke patients in southern Anhui Province. METHODS: A total of 114 patients with cerebral stroke in the Second Affiliated Hospital of Wannan Medical College from January 2018 to October 2019 were included. The MTHFR C677T genotype was performed by fluorescence in situ hybridization analysis. The MTHFR C677T gene polymorphism distribution data of the cerebral stroke population in southern Anhui Province was compared with the reported gene distribution data of Han Chinese stroke population in other parts of China. RESULTS:The frequencies distribution of TT, CT and CC genotypes of MTHFR C677T were 28.90%, 50.00%, 21.10%. The frequencies of C and T alleles were 53.95% and 46.05%. There was no gender difference in the distribution of this gene. There were significant difference in CC genotype between Chongqing area, Heilongjiang area and Guangzhou area (P<0.05). There were significant difference in TT genotype between Chongqing area, northern Henan area and Heilongjiang area (P<0.05). CONCLUSION: The distribution of MTHFR C677T gene polymorphism in the Han population of southern Anhui Province is different from other areas. It can provide a scientific basis for the prevention and treatment of cerebral stroke in high-risk population in southern Anhui Province by genetic testing technology.