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Objective To investigate the influence of the genotype distribution of methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C and methionine synthase reductase (MTRR) A66G in threatened abortion of Chinese Han gestationalage women in Sanya city,which involved in the folic acid biosynthetic pathway among.Methods One hundred and thirty-nine samples of case group and the same number of control group were recruited from Sanya region in Hainan Province.Genomic DNA was extracted from the mucosal epithelium of the subjects.The gene polyrnorphisms of MTHFR and MTRR were detected by Fluorescence quantitative PCR technology.The distribution frequencies of both case group and control group.were analyzed and compared,to investigate the effect of the gene polymorphisms on threatened abortion.Results Both the case group and the control group complied with Hardy-Weinberg law.The genotype frequency of MTHFR C677T,MTHFR A1298C and MTRR A66G were not significantly different.Conclusion This study suggests that the gene polymorphism which involved in folic metabolism was not significantly different from the group of threatened abortion and the control group,and whether the metabolism related genes are the risk factors of threatened abortion need to be further discussed.
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Objective To discuss the correlation between MTHFR gene polymorphism and unexplained recurrent spontaneous abortion.Methods A case control study was used in this study,140 patients with unexplained recurrent spontaneous abortion(UR-SA) (abortion group)and 143 cases of normal women(control group)were recruited.Genomic DNA was obtained and extracted from the oral mucosa cells.Fluorescence quantitative PCR was used to examine the MTHFR gene polymorphisms,and Taqman-MGB technology was conducted to analysis the relationship between single nucleotide polymorphism and disease.Results There was statistically significant difference in the frequencies of C677T genotype and alleles between the two groups(P＜0.05).However,no significant difference in the frequencies of A1298C genotype and alleles between the two groups(P＞0.05).Conclusion MTHFR gene C677T polymorphism might be one of the genetic risk factors of URSA.
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Objectives To investigate the relationship of methylenetetrahydrofolate reductase (MTHFR) and methioninesynthase reductase (MTRR) with unexplained recurrent spontaneous abortion (URSA). Methods Case control study was used to select 244 patients with URSA (miscarriage group) and 116 normal women (control group) who were admitted to Tianjin Medical University General Hospital and Tianjin Women’s and Children’s Health Center from January 2013 to March 2015. The oral mucosal epithelial cells were extracted using fluorescence quantitative PCR to detect MTHFR gene C677T, A1298C and MTRR gene loci of A66G single nucleotide polymorphisms (SNP). The relationship between folate metabolism related gene polymorphisms of MTHFR and MTRR and URSA was analysed. Results The frequency of C677T genotype MTHFR was significantly higher in URSA group than that in the control group, and the frequency of CT genotype was significantly lower than that of the control group (P<0.05). There was no significant difference in the frequencies of A1298C MTRR and A66G MTHFR between the two groups. The activity of MTHFR, red cell folate and plasma folate levels were significantly lower in URSA group than those of control group. Homocysteine levels were significantly higher in URSA group than those of control group (P<0.05). There were no significant differences in serum folic acid, red cell folate, homocysteine cysteine levels between patients <35 years old and ≥ 35 years old in URSA group. Conclusion C677TMTHFR gene polymorphism is associated with unexplained recurrent spontaneous abortion.
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Objective To explore the genotype distribution of methylenetetrahydrofolate reductase ( MTH-FR)C677T,A1298C and methionine synthase reductase (MTRR) A66G involved in the folic acid biosynthetic path-way among Chinese Han gestational age women in Sanhe City .Methods 601 samples were recruited from Sanhe re-gion,genomic DNA was obtained from the oral mucosa cells .The detections of MTHFR and MTRR gene polymor-phisms 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 .
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OBJECTIVE@#To explore the genotype distribution of 5,10-methylenetetrahydrofolate reductase (MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) among Chinese Han women in Zhengzhou. @*METHODS@#A total of 1 253 women were recruited from Zhengzhou city. The genotype of MTHFR C677T, A1298C and MTRR A66G was detected to analyze the distribution of gene polymorphisms and to compare them with the published data from other Han women. @*RESULTS@#The frequency of the MTHFR 1298CC genotypes (1.3%) in Zhengzhou was lower than that in Xiangtan (4.8%), Yanbian (3.8%), Zhenjiang (3.5%), Jingzhou (3.2%), Kunming (2.7%), Deyang (6.3%), Huizhou (7.2%) and Wulumuqi (3.4%) (all P<0.05). The difference in allele frequency was significant compared with that in Yantai, Yanbian, Wulumuqi, Zhenjiang, Jingzhou, Kunming, Dezhou, Xiangtan or Huizhou (all P<0.05). The frequency of the MTRR 66GG genotypes (5.4%) in Zhengzhou was lower than that in Deyang (8.2%) (P<0.01) and allele frequency between them was significant difference (P<0.05). @*CONCLUSION@#The gene polymorphism of MTHFR A1298C and MTRR A66G among the Han women in Zhengzhou is statistically different from that in some regions of China.
Subject(s)
Female , Humans , Alleles , Asian People , Genetics , China , Ferredoxin-NADP Reductase , Genetics , Gene Frequency , Genotype , Methylenetetrahydrofolate Reductase (NADPH2) , Genetics , Polymorphism, GeneticABSTRACT
Objective To explore the 5,10-methylenetetrahydrofolate reductase (MTHFR) and 5-methyltetrahydro-folate-homocysteine methyltransferase reductase ( MTRR ) gene polymorphisms among the Han women in Zhangjiagang city .Methods A total of 4008 Han women were recruited .Their oral epithelial cells were collected to extract genome DNA in order to detect gene polymorphisms of MTHFR and MTRR using fluorescence quantitative PCR.Then the results were compared with those in other cities in China .Results The genotype frequencies of MTHFR C677T CC, CT and TT among Zhangjiagang women are 32.2%, 49.5%and 18.3%, respectively.The C allele frequency is 64.3%, T allele frequency is 35.7%.The genotype frequencies of MTHFR A1298 C AA, AC and CC are 68.7%,28.7% and 2.5%, respectively .The A allele frequency is 80.8%, C allele frequency is 19.2%.The genotype frequencies of MTRR A66 G AA, AG and GG are 54.4%, 38.5%and 7.1%, respectively . The A allele frequency is 76.3%, G allele frequency is 26.4%.Conclusions The MTHFR, MTRR polymorphism distribution of Han women in Zhangjiagang city is region specific.
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Objective To investigate the relationship of plasma homocysteine with the genotype distribution of MTHFR and MTRR among Chinese Han women in Xiangtan. Methods MTHFR C677T, A1298C and MTRR A66G geno?typing was analyzed to detect the distribution of gene polymorphisms among 1 701 women from Xiangtan city then the data were compared with the rest of the Han women in Zibo, Zhengzhou, Yantai, Zhenjiang, Songzi, Huizhou, Qionghai. Plasma Hcy levels from 110 patients were measured and analyzed the correlation with gene polymorphisms. Results The frequency of MTHFR C677T 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 C677T between Xiangtan and Songzi. The frequency of MTH?FR A1298C 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 A66G genotype and allele frequencies in Xiangtan is 6.8%which is higher than Zibo (4.8%) but lower than Qionghai (9.3%) with statistically signifcant difference. Plasma Hcy concentration correlate with MTHFR C677T, 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 A1298C and Hcy concentration in CC population is higher than 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 correlate with MTRR A66G. Conclusion The gene polymorphism of MTHFR C677T, A1298C and MTRR A66G among the Han women in Xiangtan was statistically different from other selected regions of China. Mutation in MTHFR C 677T and A1298C were associated with elevated plasma levels of Hcy.
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Objective To explore the 5,10-methylenetetrahydrofolate reductase( MTHFR) and 5-methyltet-rahydrofolate-homocysteine methyltransferase reductase( MTRR) gene polymorphisms among the Han women in Laiwu City.Methods A total of 559 Han women were recruited.And their oral epithelial cells were collected to extract genome DNA in order to detect gene polymorphisms of MTHFR and MTRR using fluorescence quantitative PCR.Then the results were compared with those in other cities in China.Results The frequency of MTHFR 677CC,677CT and 677TT of Han women in Laiwu city was 14.3%,46.7%and 38.1%,respectively.The frequency of MTHFR 677TT among Laiwu women was significantly different to those of Zhenjiang, Wuhan, Kunming, Deyang, Huizhou, Qionghai (P<0.05).The frequency of AA,AC,CC gene type on MTHFR A1298C was 78.2%,19.7% and 2.1%,respec-tively, the frequency was significantly different to those of Zhenjiang, Wuhan, Kunming, Deyang, Huizhou, Qionghai (P<0.05).The frequency of AA,AG,GG gene type on MTRR A66G was 53.3%,38.8%and 7.9%,respectively. The frequency of MTRR 66GG was significantly different to that of Qionghai(P<0.05).Conclusion The MTHFR, MTRR polymorphism distribution of Han women in Laiwu City has the characteristic of region specificity,respectively.
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Objective To evaluate the effects of folic acid supplement on subjects with different 5, 10-methylenetet-rahydrofolate reductase (MTHFR) genotypes. Methods One hundred and eleven healthy women were divided into CC, CT and TT groups according to their MTHFR C677T genotypes. In each group subjects were randomly sub-divided into interven-tion (400 μg/d folic acid supplement) and control (usual diet) groups. The plasma folate, red blood cell (RBC) folate and plasma homocysteine (Hcy) concentration were measured at baseline and two months after intervention. Results The plasma folate was lower and the plasma Hcy was higher in the TT genotype than those in CC or CT genotypes (P＜0.05 or P＜0.01). After two months of intervention, the levels of plasma folate, RBC folate concentration increased while the plasma Hcy concen-tration decreased in all three intervention groups. Although the plasma folate concentration increased the most obvious in TT genotype than that of CC and CT genotypes, P＜0.05), the plasma Hcy concentration decreased the most obvious in TT geno-type than that of CT genotype, P＜0.05). Logistic regression analysis showed that the MTHFR TT genotype was a risk factor of high Hcy concentration, which was 8.078 times compared with that of CC genotype (P＜0.05). Conclusion Folic acid sup-plement can significantly increase plasma folate and red cell folate concentration, and reduce plasma Hcy concentration in all MTHFR genotypes. TT genotype was the most dangerous in disorder of folic metabolic and high Hcy concentration. However, low-dose folic acid supplement cannot reduce the risk of high Hcy concentration.