Abstract

Objective To explore the genotype distribution of methylenetetrahydrofolate reductase (MTHFR)C677T, A1298C and methionine synthase reductase(MTRR) A66G involved in the folic acid biosynthetic pathway among Chinese Han gestational age women in Sanhe City. Methods 601 samples were recruited from Sanhe region,genomic DNA was obtained from the oral mucosa cells. The detections of MTHFR and MTRR gene polymorphisms conducted with Taqman- MGB technology. The distribution of gene polymorphisms of this study was analyzed and compared with partial regions of China, which were reported. Results The frequency of MTHFR 677TT among Sanhe women(37.40%) was significantly different to Yanbian(28.30%), Zhenjiang(21.84%),Songzi(15.40%),Deyang(13.80%),Huizhou(10.90%),Qionghai(6.14%),Zibo(43.6%)(χ2= 12.60,87.44,151.95,233.02,61.87,446.90,7.27,all P<0.05).The frequency of MTHFR 1298CC(2.30%) was significantly different to Zibo(1.44%),Zhenjiang(3.50%),Songzi(2.60%),Deyang(6.26%),Huizhou(7.20%),Qionghai(7.13%)(χ2= 5.84,6.49,14.32,32.54,22.94,53.12,all P< 0.05).The frequency of MTRR 66GG(7.50%) was significantly different to Qionghai(9.25%),Songzi(6.40%)(χ2= 16.34,4.10,all P<0.05). Conclusion The MTHFR,MTRR polymorphism distribution of Han women in Sanhe City is region specific, respective. Key words: 5,10-Methylenetetrahydrofolate reductase; Methionine synthase reductase; Genetic screening; Female

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