摘要
目的分析湖南省湘潭市女性5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G位点基因多态性的分布特征,并分析其多态性与血浆同型半胱氨酸(Hcy)水平的关系。方法以湘潭市1 701例女性为研究对象,检测其MTHFR C677T、A1298C和MTRR A66G位点基因多态性,并对其中110例孕期女性检测其血浆Hcy水平。统计分析本地区基因多态性的分布特征,并与淄博、郑州、烟台、镇江、松滋、惠州、琼海等地区进行比较;分析多态性与血浆Hcy水平的关系。结果湘潭市女性的MTHFR C677T位点TT纯合突变基因型频率为12.6%,高于惠州(10.9%)、琼海(6.1%),低于淄博(43.6%)、郑州(36.8%)、烟台(32.2%)、镇江(21.8%),差异均有统计学意义。与松滋相比差异无统计学意义。MTHFR A1298C位点CC纯合突变基因型频率为4.8%,低于琼海(7.1%)、高于淄博(1.4%)、郑州(2.4%)、烟台(1.8%)、镇江(3.5%)、松滋(2.6%),差异均有统计学意义。MTRR A66G位点GG纯合突变基因型频率为6.8%,高于淄博(4.8%),低于琼海(9.3%),差异有统计学意义。血浆Hcy浓度与MTHFR C677T位点基因型多态性有关,TT型人群Hcy浓度高于CT型人群和CC型人群(μmol/L:8.52±2.01 vs 5.94±1.47 vs 5.71±0.18);血浆Hcy浓度与MTHFR A1298C位点基因型多态性有关,CC型人群Hcy浓度高于AA型人群和AC型人群(μmol/L:9.83±2.26 vs 6.35±2.13 vs 5.55±1.75);血浆Hcy浓度与MTRR A66G位点基因型无关。结论湘潭市女性MTHFR和MTRR基因多态性频率不同于其他地区,具有地域特异性。MTHFR C677T、A1298C位点多态性与Hcy水平有关。
Objective To investigate the relationship of plasma homocysteine with the genotype distribution ofMTHFR and MTRR among Chinese Han women in Xiangtan. Methods MTHFR C677 T, A1298 C and MTRR A66 G geno-typing was analyzed to detect the distribution of gene polymorphisms among 1 701 women from Xiangtan city then the datawere compared with the rest of the Han women in Zibo, Zhengzhou, Yantai, Zhenjiang, Songzi, Huizhou, Qionghai. PlasmaHcy levels from 110 patients were measured and analyzed the correlation with gene polymorphisms. Results The frequencyof MTHFR C677 T genotype and allele frequencies in Xiangtan is 12.6% which is higher than Huizhou（10.9%） and Qionghai（6.1%） but lower than Zibo（43.6%）, Zhengzhou（36.8%）, Yantai（32.2%）, Zhenjiang（21.8%） with statistically significant dif-ference（P〈0.05）. There is no significant different in MTHFR C677 T between Xiangtan and Songzi. The frequency of MTH-FR A1298 C genotype and allele frequencies in Xiangtan is 4.8% which is lower than Qionghai（7.1%）but higher than Zibo（1.4%）,Zhengzhou（2.4%）, Yantai（1.8%）, Zhenjiang（3.5%）and Songzi（2.6%）with statistically significant difference.The frenquency of MTRR A66 G genotype and allele frequencies in Xiangtan is 6.8% which is higher than Zibo（4.8%） butlower than Qionghai（9.3%） with statistically signifcant difference. Plasma Hcy concentration correlate with MTHFR C677 T,Hcy concentration in TT population is higher than that in CT and CC population（μmol/L：8.52±2.01 vs 5.94±1.47 vs 5.71±0.18）;Plasma Hcy concentration also correlate with MTHFR A1298 C and Hcy concentration in CC population is higherthan AA and AC population（μmol/L： 9.83±2.26 vs 6.35±2.13 vs 5.55±1.75）;Plasma Hcy concentration does not correlatewith MTRR A66 G. Conclusion The gene polymorphism of MTHFR C677 T, A1298 C and MTRR A66 G among the Han women in Xiangtan was statistically different from other selected regions of China. Mutation in MTHFR C677 T and A1298 Cwere associated with elevated plasma levels of Hcy.
出处
《天津医药》
CAS
北大核心
2014年第12期1205-1209,共5页
Tianjin Medical Journal
基金
中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0018)
