论文部分内容阅读
目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T、胱硫醚β合成酶(CBS)基因844ins68和甲硫氨基合成酶(MS)基因A2756G3种同型半胱氨酸(Hcy)代谢相关酶基因多态性与北京社区汉族老年人群中原发性高血压(EH)、EH伴周围动脉闭塞性疾病(PAOD)易感性的关系。方法PCR扩增老年EH(EH组)、老年EH伴PAOD(EHPAOD组)患者和老年健康对照组的MTHFRC677T、CBS844ins68、MSA2756G基因突变点,直接或经限制性内切酶消化后行凝胶电泳,确定基因型并统计基因突变频率。结果EH组100例MTHFR基因3种基因型频率为:C/C290%,C/T450%,T/T260%;EHPAOD组59例为:C/C159%,C/T355%,T/T486%;对照组100例为:C/C310%,C/T500%,T/T190%。3组MTHFR基因的C677T单核苷酸突变中T突变位点的频率分别为485%、644%、440%。EHPAOD组与对照组和EH组比较,MTHFRT/T基因型频率和T等位基因频率差异均有统计学意义。而CBS844ins68、MSA2756G各种基因型频率和等位基因频率在EH组、EHPAOD组和对照组之间差异无统计学意义。结论MTHFR基因C677T单核苷酸突变可能是北京社区汉族老年人PAOD的遗传性危险因素之一,可能与EH无关。且CBS基因844ins68、MS基因A2756G的突变可能都不足以成为EH和PAOD的遗传危险因子。
OBJECTIVE To investigate the effects of MTHFR gene C677T, cystathionine β synthase (CBS) gene 844ins68 and methionine synthetase (MS) gene A2756G3 homocysteine (Hcy) metabolism related enzymes Gene polymorphisms and the relationship between essential hypertension (EH) and peripheral arterial occlusive disease (PAH) in elderly Han population in Beijing. Methods Mutations of MTHFRC677T, CBS844ins68 and MSA2756G gene in elderly patients with EH (EH group), elderly patients with EH with PAOD (EHPAOD group) and elderly healthy controls were detected by PCR, digested directly or by restriction endonuclease, Determine the genotypes and statistics of gene mutation frequency. Results The frequencies of three genotypes of MTHFR gene in 100 cases of EH group were C / C290%, C / T450% and T / T260%. The EHPAOD group had 59 cases of C / C159%, C / T355% and T / T486% The control group of 100 cases: C / C310%, C / T500%, T / T190%. The frequencies of T mutation sites in C677T single nucleotide mutation of MTHFR gene were 485%, 644% and 440% respectively. EHPAOD group compared with the control group and EH group, MTHFRT / T genotype frequency and T allele frequency differences were statistically significant. However, the frequencies of genotypes and alleles of CBS844ins68 and MSA2756G were not significantly different between EH group, EHPAOD group and control group. Conclusions The C677T single nucleotide mutation of MTHFR gene may be one of the genetic risk factors for PAOD in elderly Han people in Beijing community and may not be related to EH. And mutations of CBS gene 844ins68 and MS gene A2756G may not be enough to be genetic risk factors of EH and PAOD.