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AIM: To investigate the distribution characteristics of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and its correlation with blood Hcy in hypertensive patients and to provide reference for the prevention and treatment of H-type hypertension in southern Anhui Province. METHODS: A total of 657 hypertensive patients were treated in our hospital from October 2019 to August 2020 were selected as the research objects. The MTHFR C677T and A1298C loci were genotyped by fluorescence staining in situ hybridization, and the blood Hcy concentration was determined by the enzyme cycle method. The distribution characteristics of MTHFR gene in the Han nationality hypertensive population in southern Anhui Province were analyzed, and compared with the reported MTHFR gene distribution data of hypertensive populations in other regions and ethnic groups. RESULTS: Among the 657 patients, the distributions of CC, CT and TT types at the C677T site of MTHFR gene were 212(32.27%), 321 (48.86%), 124(18.87%), and the distribution of AA, AC, and TT types at the A1298C site were 467 (71.08%), 171(26.03%), 19(2.89%). There was no gender difference in the distribution of the two loci of this gene in the hypertensive population in southern Anhui Province (P > 0.05). The distribution frequency of CC genotype at C677T locus is lower than that in Foshan and Guangxi, but higher than that in Henan, Xinjiang and Inner Mongolia; the frequency of CT genotype is higher than that in Foshan and Guangxi; the frequency of TT genotype is higher than that in Foshan and Guangxi. Guangxi region was lower than Henan region, Xinjiang region and Inner Mongolia region, and the difference was statistically significant (P 0.05). CONCLUSION: The distribution of MTHFR gene polymorphism in the Han nationality hypertensive population in southern Anhui is significantly different from other regions, and it is also significantly related to the level of Hcy, which has obvious regional characteristics. The genetic detection technology combined with the determination of Hcy concentration can provide a scientific basis for the prevention and treatment of H-type hypertension in southern Anhui Province.
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AIM: To investigate and analyze the distribution characteristic of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism among cerebral stroke patients and to provide prevention and treatment for stroke patients in southern Anhui Province. METHODS: A total of 114 patients with cerebral stroke in the Second Affiliated Hospital of Wannan Medical College from January 2018 to October 2019 were included. The MTHFR C677T genotype was performed by fluorescence in situ hybridization analysis. The MTHFR C677T gene polymorphism distribution data of the cerebral stroke population in southern Anhui Province was compared with the reported gene distribution data of Han Chinese stroke population in other parts of China. RESULTS:The frequencies distribution of TT, CT and CC genotypes of MTHFR C677T were 28.90%, 50.00%, 21.10%. The frequencies of C and T alleles were 53.95% and 46.05%. There was no gender difference in the distribution of this gene. There were significant difference in CC genotype between Chongqing area, Heilongjiang area and Guangzhou area (P<0.05). There were significant difference in TT genotype between Chongqing area, northern Henan area and Heilongjiang area (P<0.05). CONCLUSION: The distribution of MTHFR C677T gene polymorphism in the Han population of southern Anhui Province is different from other areas. It can provide a scientific basis for the prevention and treatment of cerebral stroke in high-risk population in southern Anhui Province by genetic testing technology.
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Objective Using meta-analysis to assess the association between maternal 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and the risk of offspring congenital heart defect (CHD) in Chinese population.Method PubMed,Embase,Web of science,Chinese Biomedical Literature Database,Chinese Science and Technology Academic Journal,Chinese Journal Full-text Database and Wanfang database were searched extensively from since their inception to January 2017 for relevant case-control studies.Odds ratio (OR) of MTHFR C677T genotype distributions in patients with CHD and healthy controls was calculated.Pooled OR calculation was analyzed by revMan 5.3software.Result A meta-analysis of nine case-control studies included 1 221 cases and 1 108 controls.There was association between maternal MTHFR gene C677T and the CHD of offspring and the pooled OR (95 ％ CI) of maternal TT/TC,TT/CC,TC/CC,TT/TC + CC and TT + TC/CC were 1.85 (95 ％ CI 1.50 ～2.28),2.33 (95％CI 1.81 ～3.00),1.24 (95％CI 1.00 ～ 1.54),2.00 (95％ CI 1.64 ～2.44) and 1.55 (95 ％ CI 1.27 ～ 1.89) (P ＜ 0.05),respectively.Conclusion There was association between maternal MTHFR C677T polymorphism and risk of offspring CHD in the Chinese population.
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As one of important B vitamins,folate is an essential nutrient for the body and involves in various biochemical and metabolic reactions.Studies have shown that as an important methyl donor in the carbon metabolism cycle,folate has an important impact on pregnancy,pregnancy complications,and birth defects.Further studies have shown that in the folate metabolic pathway,the gene polymorphism and folic acid metabolism of a key enzyme,5,10-methylenetetetrahydrofolate reductase (MTHFR),play an important role in ovarian function.Gene polymorphism and the high homocysteine levels caused by it can lead to the damage of reproductive function and endocrine function,including follicular development,embryonic development,and hormone secretion.Gene polymorphism is also associated with the occurrence and development of ovarian disease and its response to treatment.With the deep understanding of folate metabolism,MTHFR gene polymorphism may become a new genetic marker for predicting the risk of disease and a new target for related gene therapies.
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Objective To investigate the correlation between the gene polymorphism of homocysteine metabolic enzyme cystathionine β-synthase(CBS) 844ins68,N5,10-methylenetetrahydrofolate reductase(MTHFR) C677T and chronic pulmonary heart disease(CPHD).Methods A total of 230 patients with CPHD in observation group were selected from January 2014 to November 2016 in the Second People's Hospital of Xinxiang City,and 235 healthy subjects in healthy control group were selected at the same time.The lung function test was performed with lung function instrument,and the percentage of the forced expiratory volume in one second to predicted value(FEV1％ pred) and the forced expiratory volume in one second to forced vital capacity(FEV1％) value were recorded in the two groups.The fasting ulnar venous blood was collected from the patients in the observation group on the next morning after hospitalization and the subjects in the control group on the morning of health examination.The levels of plasma homocysteine (Hcy),fasting blood glucose (FBG),triacylglycerol (TG),total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) were detected.The DNA was extracted from the whole blood cells.The CBS 844ins68 polymorphism was detected by polymerase chain reaction genotyping.The MTHFR C677T polymorphism was detected by restriction fragment length polymorphism polynerase chain reaction.Results There was no significant difference in the FBG level between the two groups (P ＞ 0.05).The levels of Hcy,TG,TC and LDL-C in the observation group were significantly higher than those in the healthy control group (P ＜ 0.05),and the FEV1 and FEV1％ pred were significantly lower than those in the healthy control group (P ＜ 0.05).There were two genotypes of CBS 844ins68 in the two groups.The genotype frequencie of DD and DI in the observation group was 91.74％ and 8.26％,and the allele frequency of D and I was 95.87％ and 4.13％ respectively.The genotype frequency of DD and DI in the healthy control group was 94.04％ and 5.96％,and the allele frequency of D and I was 97.02％ and 2.98％ respectively.There was no significant difference in genotype and allele frequency distribution between the two groups (x2 =0.935,0.901;P ＞ 0.05).Three genotypes of MTHFRC677T were detected after enzyme digestion in the two groups.The genotype frequency of CC,CT and TT in the healthy control group was 27.66％,48.94％ and 23.40％;and the allele frequency of C and T was 52.13％ and 47.87％ respectively.The frequency of TT genotype and T allele in the observation group was significantly higher than that in the healthy control group (x2 =7.730,7.326;P ＜ 0.05).Conclusions Hcy level increasing may be a risk factor for CPHD.The polymorphisms of CBS 844ins68 gene may be unrelated to the occurrence of CPHD.The polymorphism of the MTHFR C677T gene may contribute to CPHD by affecting Hcy level.The T allele of MTHFR C677T may be a risk factor for CPHD,and the MTHFRC677T gene may be a genetic predisposition to CPHD.
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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 investigate the relationship between gene polymorphisms of homocysteine (Hcy), metabolic enzymes methylenetetrahydrofolate reductase MTHFR C677T and chronic pulmonary heart disease (CPHD). Methods The gene polymorphisms of MTHFR C677T were determined by the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)in CPHD patients (n=120) and healthy control (HC, n=120), and genotyping was carried on. The automatic biochemistry analyzer was used to detect the level of Hcy and other related biochemical indicators. Results There was significant difference in Hcy level between the CPHD group and HC group (P<0.05). The mutation frequencies of CC, CT and TT were 24.17%, 43.33%and 32.50%, 35.00%, 47.50%and 17.50%in the CPHD group and HC group. The mutation frequencies of allele C/T were 45.83%and 54.17%in HC group, and 58.75%and 41.25%in control group. There was significant difference in the overall frequency distribution between the three genotypes (χ2 =8.010, P<0.05). The frequency of T allele was significantly higher in CPHD group than that in control group (χ2=8.025,P<0.05). Conclusion The increased Hcy and its metabolic enzyme MTHFR C677T may be involved in the occurrence and development of CPHD.
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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 investigate the relationship between folate metabolism-related gene polymorphism and fetal congenital defects,and discuss the effect of genetic factors on fetal congenital defects.Methods Retrospective analysis was used to investigate the genotype and gene frequency of 5,1O-methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C gene loci and ethionine synthase reductase (MTRR) A66G gene locus in 132 cases of adverse pregnancy pregnant women (case group) and 150 cases normal pregnant women (control group) at the same period.The statistical differences were analyzed between the levels of their serum folate,vitamin B12 (Vit B12) and homocysteine (HCY).Results In the serum of case group,folate was positively correlated with Vit B12,and was negatively correlated with HCY,only HCY of skeletal system defects(6 cases) was higher (t =3.409,P ＜ 0.05).Comparing genotypes frequency of the MTHFR C677T,A1298C gene loci and MTRR A66G gene locus in case group with control group,the difference above was not statistically significant (P ＞ 0.05).In these three gene loci C/T,A/C and A/G allele frequency with the control group,the difference above was not statistically significant (all P ＞ 0.05).Different genotype combinations of MTHFR C667T and A1298C gene loci in control groups had no statistically different from the control group (P ＞ 0.05),and there was no synergy.Conclusions Maternal folate metabolism-related MTHFR and MTRR genes polymorphisms can affect the metabolic products levels accordingly.However,the correlation between the changes and the genetic mechanism of fetal congenital defects needs more large samples study in depth.
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Objective To explore the relationship between methylenetetrahydrofolate reductase (MTHFR) 677C ＞ T and unexplained recurrent pregnancy loss (URPL).Methods All patients were recruited from the outpatient department of Obstetrics/Gynaecology & Genetics of Hangzhou First People's Hospital from January 2013 to May 2014.A case-control study was performed.According to the stochastic indicator method,there were 125 subjects with a history of ≥2 times URPL as the case group,and 905 healthy parous women with no history of URPL as the control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the distributions of the polymorphisms of MTHFR 677C ＞ T,and the results were validated using oligo-chip and direct sequencing.Results The allele and genotype frequencies of MTHFR were 60.0％ for C,40.0％ for T,32.0％ for CC,56.0％ for CT,and 12.0％ for TT in the case group and 67.4％ for C,32.6％ for T,41.4％ for CC,52.0％ for CT,and 6.6％ for TT in the control group,respectively.The prevalence of allele T was significantly higher in the case group than in the control group (OR =1.379,95％ CI =1.051-1.808,P =0.020),the frequency of genotype TT was also significantly higher in the case group than in the control group (OR =2.344,95％ CI =1.220-4.503,P =0.009).Conclusion The fertile women with MTHFR 677T allele and 677TT genotype may be susceptibility to URPL in a Chinese Han population from the Hangzhou area.
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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 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.
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Objective: To investigate the association of polymorphisms of related genes in folic acid metabolic pathway and the tumor candidate genes with the survival of gastric cancer patients treated with capecitabine combined with paclitaxel. Methods: Ninety-three patients with pathological diagnosis of gastric cancer were treated with capecitabine plus paclitaxel-based chemotherapy. The gene polymorphisms of tumor necrosis factor ( TNF) A308G (rs1800629), methylenetetrahydrofolate reductase ( MTHFR) C677T (rs1801131) and A1298C (rs1801133), methionine synthase ( MTR) A2756G (rs1805087) and methionine synthase reductase ( MTRR) A66G (rs1801394) were detected by TaqMan-MGB probe typing method. The median survival time (MST) of patients with different genotypes was compared, and the effects of various factors on the prognosis were evaluated. Results: The median follow-up period was 29.6 months. The MST of 93 patients was 34.93 months. The MST of patients with MTHFR 1298CA and 1298CC were 47.50 and 22.91 months, respectively. The log-rank test revealed that the polymorphism of MTHFR 1298C/A had marginally significant correlation with the survival of patients (χ2=3.447, P=0.062), and other gene polymorphisms were not associated with the survivals. The gender, drinking and operation were the major prognostic factors for gastric cancer patients receiving chemotherapy. Conclusion: Detection of MTHFR 1298CA polymorphism may predict the survival of gastric cancer patients receiving chemotherapy of capecitabine combined with paclitaxel.
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In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela) collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations) between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by population-specific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase) and RFC1 (reduced folate carrier 1) were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.
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Female , Humans , Infant, Newborn , Cleft Lip/genetics , Cleft Palate/genetics , Folic Acid/analogs & derivatives , Membrane Transport Proteins/genetics , Black People , Cleft Lip/ethnology , Cleft Palate/ethnology , DNA, Mitochondrial/genetics , White People , Folic Acid/genetics , Genetic Markers , Genetic Predisposition to Disease/genetics , Haplotypes , Indians, South American , Polymorphism, Genetic , South AmericaABSTRACT
Objective To investigate the single nucleotide polymorphism of 5,10-methylenetetrahy-drofolate reduetase gene and its association with the treatment of methotrexate in rheumatoid arthritis (RA).Methods A total of 184 patients with RA were divided into methotrexate (MTX) treatment group, MTX+other DMARDs treatment group, and treatment with other DMARDs but not MTX group. The clinical and laboratory data were evaluated before treatment and 24 weeks later. Efficacy and toxieities of each medication were also analyzed. Real-time fluorescent quantitative PCR was conducted to test gene mutations in RA patients and 100 healthy controls. Results There was no significant difference in the frenqueney of 677CC,CT, "IT and 1298AA, AC, CC between RA patients and the healthy controls. There was significant difference in the frenqueney of 677CC, CT, Tr between RA patients with cardiovascular eomplieations and the healthy controls. In the MTX treatment group, there was significant difference in the frenqueney of 1298AC, CC between the group in which MTX was effective and the other groups in which MTX was not effective, the occurrence rate of side effects of MTX in the patients with 677TT was higher than those without mutation(CC).In MTX+other DMARDs group, the occurrence rate of side effects of MTX in the patients with 677TT and CT was higher than that without mutation (CC). Conclusion There is no relationship between the pathogenesis of RA and the 677C/T, 1298A/C mutation of MTHFR gene. MTHFR gene 677C/T mutation is probably one of the genetic risk factors for cardiovascular complications of RA patients and the side effects of MTX. MTHFR gene 1298A/C allel is associated with the efficacy of MTX.
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Objective To evaluate the relationship between 5,10-Methylenetetrahydrofolate reductase(MTHFR) gene polymorphisms and colorectal cancer(CRC).Methods Studies were selected based on the criteria for inclusion.The Meta-analysis software,REVMAN 4.2,was applied for checking the heterogeneity across the studies and calculating the pooled OR.The results were evaluated by the analyses of publication bias and sensitivity.Results A total of 9 787 cases and 12 986 controls from 18 studies for C677T and a total of 4 422 cases and 5 819 controls from 9 studies for A1 298C were included.No heterogeneity among the studies was found.For codon 677,the frequencies of CC,CT and TT genotypes were 46.48%,43.81% and 9.71% in cases,and 45.03%,43.08% and 11.89% in controls,respectively.The pooled OR of TT vs.CT+CC was 0.80(95%CI 0.74～0.87).For codon 1 298,the frequencies of AA,AC and CC genotypes were 53.60%,39.39% and 7.01% in cases,and 53.31%,38.67% and 8.03% in controls,respectively.The pooled OR of CC vs.AC+AA was 0.84(95%CI 0.72～0.97).Conclusions MTHFR 677TT is at lower risk of developing CRC and 1 298CC genotypes might be associated with the decreased risk of developing CRC.
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Objective To investigate the genetic association of MTHFRC677T between CBS844ins68 polymorphism and young ischemic stroke.Methods The polymorphism of MTHFRC677T and CBS844ins68 in 98 stroke patients and 116 control subjects were examined and analyzed by using PCR-RFLP.Results The frequencies of two alleles were as follows: T allele 54.09%,C allele 45.91% in patients and T 37.93%,C 62.07% in controls(?2=11.18,P
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Objective To study the relationship of plasma homocysteine (Hcy), polymorphism in 5,10-methylenetetrahydrofolate reductase (MTHFR) and cystathionine-?-synthase (CBS) genes, and cerebral infarction in the elderly. Methods 61 elderly patients with first-ever acute cerebral infarction and 57 controls were studied. The plasma Hcy levels were measured using high-performance liquid chromatography-fluorescence detection (HPLC-FD). The polymorphism in MTHFR was determined by a polymerase chain reaction (PCR) assay and subsequent restriction enzyme digestion.CBS was determined by amplification refractory mutation system (ARMS). Results The fast plasma Hcy levels were higher in the patient group compared with those in the control group [(13.07?3.96)?mol/L vs (11.51?3.90)?mol/L, P 0.05). There were no differences in the plasma Hcy levels among the different genotypes. Conclusions The MTHFR, CBS gene mutations cannot lead to hyperhomocysteinemia in the elderly patients with acute cerebral infarction. Hyperhomocysteinemia is associated with the independent risk of cerebral infarction, however, mutations only in MTHFR and CBS cannot be ascertained to be independent risk of cerebral infarction in the elderly.
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Cibacron Blue F3G-A, a probe used to monitor nucleotide binding domains in enzymes, inhibited sheep liver 5, 10-methylenetetrahydrofolate reductase competitively with respect to 5-methyltetrahydrofolate and NADPH. The Ki values obtained by kinetic methods and the Kd value for the binding of the dye to the enzyme estimated by protein fluorescence quenching were in the range 0·9-1·2 μM. Another triazine dye, Procion Red HE-3B interacted with the enzyme in an essentially similar manner to that observed with Cibacron Blue F3G-A. These results as well as the interaction of the dye with the enzyme monitored by difference spectroscopy and intrinsic protein fluorescence quenching methods indicated that the dye was probably interacting at the active site of the enzyme by binding at a hydrophobic region.