宁夏回、汉族人群5,10-亚甲基四氢叶酸还原酶C677T多态性研究

目的研究宁夏地区回、汉族人群及不同性别5,10-亚甲基四氢叶酸还原酶(methy lenetetrahy drofolatereductase,MTHFR)C677T多态性的分布特点。方法应用限制性片段长度多态性扩增技术(PCR-RFLP)及DNA测序法分析宁夏地区146例回族和169例汉族人群及回汉族男、女性MTHFR C677T基因型的分布频率。结果宁夏汉族人群MTHFR C677T基因型频率分别为C/C 20.4%、C/T 54.5%和T/T 24.8%,回族为C/C8.2%、C/T 88.4%和T/T 3.4%,二者差异有统计学意义(P<0.005)。回族男性该基因型频率分别为7.1%、88.6%和4.3%,女性为9.2%、88.2%和2.6%(P>0.05);汉族男性为26.0%、46.3%和27.7,女性为17.4%、59.1%和23.5%(P>0.05)。结论宁夏地区回、汉族MTHFR C677T的三种基因型CC、CT、TT的分布存在差异,三种基因型的分布在性别间未见差异。

A Study of the Genetic Polymorphism of MTHFR C677T Between Hui and Han Population in Ningxia

Objective To investigate the frequencies of the allele and genotype of MTHFR C677T between Hui and Han Population in Ningxia.Methods Restriction fragment length polymorphism(PCR-RFLP) and direct DNA sequencing were used to detect the genetic genotype.The genetic polymorphism distribution of MTHFR C677T between the 146 Hui nationalities and 169 Han nationalities in Ningxia were compared.Results The genotype frequencies of MTHFR C677T in Han population were C/C 20.4%,C/T 54.5%,T/T 24.8% and in Hui population were C/C 8.2%,88.4%,3.4% respectively.The genotype frequencies of male and female in Hui were 7.1%,88.6%,4.3%;9.2%,88.2%,2.6% respectively.And the genotype frequencies of male and female in Han were 26.0%,46.3%,27.7%;17.4%,59.1%,23.5%,respectively.Conclusion There is a significant difference between Ningxia Han and Hui in genetic polymorphism distribution of the MTHFR C677T(P<0.05).And there is not a significant difference between male and female both in Ningxia Hui and Han of genetic polymorphism distribution of the MTHFR C677T(P>0.05).