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探讨昆明地区妊娠期女性5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的分布特征,了解本地区该基因的人群遗传特征突变情况,以期为妊娠女性个体化保健提供科学依据。以在昆明市延安医院进行孕期检查的239名汉族女性为研究对象,通过数字荧光分子杂交(DFMH)进行MTHFR C677T基因多态性检测,统计分析本地区基因多态性的分布特征。同时与曲靖以及整个云南地区数据分析结果进行比较。在本研究中,昆明,曲靖以及整个云南的汉族妊娠期女性的MTHFR 677TT突变纯合基因型频率分别为10.46%,12.00%,10.79%,等位基因T的频率分别为:35.15%,37.00%,34.58%。昆明地区与曲靖,以及与整个云南汉族妊娠期女性的MTHFR C677T基因多态性无明显差异(P>0.05)。昆明地区汉族妊娠女性的MTHFR C677T基因多态性分布情况与曲靖,乃至整个云南分布情况相同,表明不存在地域差异。
To investigate the distribution of C677T gene polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) in pregnant women in Kunming area, and to understand the mutation of genetic characteristics in this population in order to provide individualized health care for pregnant women Scientific basis. A total of 239 Han Chinese women who underwent pregnancy test in Yan’an Hospital of Kunming City were selected as the research objects. MTHFR C677T gene polymorphism was detected by digital fluorescent molecular hybridization (DFMH), and the distribution of genetic polymorphisms in the region was statistically analyzed. At the same time with Qujing and the entire Yunnan area data analysis results are compared. In our study, the frequencies of MTHFR 677TT mutation homozygous genotypes in Kunming, Qujing and Yunnan Han pregnant women were 10.46%, 12.00% and 10.79% respectively. The frequencies of allele T were 35.15% and 37.00% , 34.58%. There was no significant difference (P> 0.05) in MTHFR C677T polymorphism between Kunming and Qujing, and with the Han women in Yunnan during pregnancy. The distribution of MTHFR C677T gene polymorphism in Han pregnant women in Kunming area is the same as that in Qujing and even throughout Yunnan, indicating that there is no geographical difference.