摘要
目的探讨铜陵地区脑卒中病人5,10 亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)C677T基因多态性分布的特点及同型半胱氨酸(Homocysteine,Hcy)的水平。方法选取2017年6月到2019年4月铜陵市人民医院的脑卒中病人234例、非脑卒中对照者69例,用焦磷酸测序技术检测MTHFR基因C667T多态性,循环酶法检测血清Hcy水平,比较不同组别MTHFR基因型分布特点,并分析不同基因型Hcy水平的差异。结果脑卒中组基因型分布为CC型73例(31.2%),CT型114例(48.7%),TT型47例(20.1%),基因型分布无性别差异;脑卒中组等位基因T频率(44.4%)高于对照组等位基因T频率(33.3%),差异有统计学意义(P<0.05);脑卒中组CC、CT、TT基因型Hcy水平分别为9.20(7.50,12.35)μmol/L、9.60(7.60,12.85)μmol/L、16.00(10.45,30.05)μmol/L,其中TT基因型病人的Hcy水平高于同组CT、CC基因型病人的Hcy水平,差异有统计学意义(P<0.05);脑卒中组TT基因型病人的Hcy水平高于对照组同种基因型的Hcy水平,差异有统计学意义(P<0.05)。结论铜陵地区脑卒中病人MTHFR C677T基因突变频率较高并与Hcy水平相关,可能是脑卒中的危险因素。
Objective To investigate the distribution of methylenetetrahydrofolate reductase(MTHFR)gene C677T polymorphism of and the level of homocysteine(Hcy)in stroke patients in Tongling area.Methods 234 stroke patients and 69 healthy controls were selected from Tongling People’s Hospital from June 2017 to April 2019.The polymorphism of MTHFR C667T was detected by pyrophosphate sequencing technique.Serum Hcy level was detected by circulating enzyme method.The distribution characteristics of MTHFR genotypes in different groups were compared and the differences of Hcy levels among different genotypes were analyzed.Results In the stroke group,MTHFR C667T genotype distribution was CC genotype 73 cases(31.2%),CT genotype 114 cases(48.7%),TT genotype 47 cases(20.1%).There was no gender difference in genotype distribution.The frequency of T allele in the stroke group(44.4%)was higher than that in the control group(33.3%),the difference was statistically significant(P<0.05).In the stroke group,Hcy of CC,CT and TT genotype were 9.20(7.50,12.35)μmol/L,9.60(7.60,12.85)μmol/L and 16.00(10.45,30.05)μmol/L,respectively.Hcy in TT genotype patients were higher than those in CT and CC genotype(P<0.05).Compared with the control group,Hcy of TT genotype patients in the stroke group was higher(P<0.05).Conclusion The frequency of MTHFR C677T gene mutation is higher in stroke patients in Tongling area,which is related to the level of Hcy,and may be a risk factor for stroke.
作者
朱娟娟
崇慧峰
胡志军
吴宝明
潘晓龙
李旭光
唐吉斌
ZHU Juanjuan;CHONG Huifeng;HU Zhijun;WU Baoming;PAN Xiaolong;LI Xuguang;TANG Jibin(Department of Clinical Laboratory,Tongling People’s Hospital,Tongling,Anhui 244000,China;Department of Pharmacy,Anhui Medical University,Hefei,Anhui 230032,China)
出处
《安徽医药》
CAS
2020年第5期895-898,共4页
Anhui Medical and Pharmaceutical Journal
基金
国家自然科学青年科学基金项目(81500473)
安徽省铜陵市卫生局科研课题资助项目(卫科研[2019]17号)。
