TGFBR2 mutation and MTHFR-C677T polymorphism in a Mexican mestizo population with cervico-cerebral artery dissection
Angélica Ruíz-FrancoMiguel A. BarbozaAurelio Jara‐PradoSamuel Canizales‐QuinterosPaola León‐MimilaNayelli Arguelles-MoralesJuan Camilo Vargas‐GonzálezAlejandro Quiroz-CompeánAntonio Araúz
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최근에 신부전 환자들의 심혈관 질환의 발생은 혈중 호모시스테인 농도와 관련이 없고 5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T 유전자 다형성과 관련이 있다는 보고가 나오고 있다. MTHFR 유전자 다형성이 혈중 호모시스테인의 농도를 증가시킨다는 기존의 의미 외에, 그 자체로 죽상동맥경화증이나 심혈...
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Objective:Classified HBV DNA of AsC of children and their parents. Methods:Using a genotyping method of based on the restriction fragment length polymorphism (RFLP) of amplified segment of the HBV S region.Results: Among the AsC of children living in Guangzhou,genotype B is 62.7%,genotype C is 33.3%,genotype B and C is 3.3%,only 1.7% could not be classified.Conclusion:The method for genotyping is simple and conveniat,the prevalent HBV strain in Guangzhou is genotype B and genotype C.
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The aim of the study was to determine AAT genotype by the simple DNA-based method in a group of ten Croatian families. AAT genotype was determined by PCR-RFLP in samples taken from each member of the ten families (mother, father and child/children). In the group of parents, five normal genotypes, Pi MM and fifteen Pi MZ genotypes, were detected. In the group of children, particular genotypes followed the mode of inheritance. There were eight Pi MZ, and five Pi ZZ genotypes. PCR-RFLP was found to be the method of choice for AAT genotyping. Determination of AAT genotype in family studies enables the risk of deficient allele inheritance to be followed-up and assessed. Early diagnosis of a deficient AAT genotype contributes to the success of currently widely available AAT replacement therapy.
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Genetic predisposition
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Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations, being considered unfavourable genetic factors by causing elevated serum homocysteine levels, may be risk factors for cardiovascular disorders, including ischaemic stroke. In this study, the role of these two mutations in ischaemic stroke was examined:Genetic and clinical data were analysed of 122 ischaemic stroke patients and 102 control subjects with no lesions by neuroimaging.Neither of the two MTHFR mutations alone was found to be a significant genetic risk factor for ischaemic stroke. However, at least one MTHFR 677T allele combined with at least one MTHFR 1298C allele significantly increased the risk of ischaemic stroke (adjusted odds ratio: 3.39; p < 0.001).The synergistic effect between the two MTHFR mutations may represent a new genetic stoke risk factor.
Ischaemic stroke
Stroke
Hyperhomocysteinemia
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Objective Classified HBV DNA of AsC of children living in Guangzhou. Methods Using a genotyping method based on the restriction fragment length polymorphism (RFLP) of amplified segment of the HBV S region. Results Among the AsC of children living in Guangzhou ,genotype B is 62.7%,genotype C is 33.3% genotype B and C is 3.3%,only 1.7%couldn not be classified . Conclusions The method for genotyping is simple and convenient,The prevalent HBV strain of children in Guangzhou is genotype B and genotype C.
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Background The methylenetetrahydrofolate reductase ( MTHFR ) polymorphism is a risk factor for neural tube defects. C677T and A1298C MTHFR polymorphisms produce an enzyme with reduced folate‐related one carbon metabolism, and this has been associated with aberrant methylation modifications in DNA and protein. Methods A meta‐analysis was conducted to assess the association between MTHFR C677T/A1298C genotypes and global genomic methylation. Results Eleven studies met the inclusion criteria. Of these, 10 were performed on C677T MTHFR genotypes and 6 were performed on A1298C MTHFR genotypes. Our results did not indicate any correlation between global methylation and MTHFR A1298C, C677T polymorphisms. Conclusion The results of our study provide evidence to assess the global methylation modification alterations of MTHFR polymorphisms among individuals. However, our data did not found any conceivable proof supporting the hypothesis that common variant of MTHFR A1298C, C677T contributes to methylation modification. Birth Defects Research (Part A) 106:667–674, 2016. © 2016 Wiley Periodicals, Inc.
genomic DNA
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Objective Using PCR-RDB to establish a new method for HBV genotyping, and to survey the distribution of HBV genotypes in the Foshan area. Methods Biotin-labeled primers for amplification of HBV region X (nt1550-1789) were used to amplify extracted HBV DNA. HBV was genotyped by hybridization of the PCR products with immobilized specific probes (genotype A to F) on C membrane. Color development was achieved by adding POD and TMB. A judgment was made according to color reactions. The reliability of this new method was verified by gene sequencing. 300 samples of HBV DNA-positive sera from the Foshan area were genotyped using this assay. Results Of the 300 sera genotyped by PCR-RBD, 147 (49.0%) cases were genotype B, 136 (45.3%) were genotype C, 1 (0.3%) genotype D, and 12 (4.0%) were mixtures of genotype B and C, and 4 (1.3%) were mixtures of genotype C and D. No genotype A, E or F were found. The results of PCR-RDB genotyping were consistent with the results obtained with sequence analysis. Conclusion This newly established HBV genotyping system proved to be sensitive, specific, precise and economic, and should be suitable for clinical practice and epidemic study. The results of HBV genotyping show that genotype B and C are the predominant genotypes in the Foshan area.
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Folate metabolism is thought to play an important role in lung cancer through its involvement in both DNA methylation and nucleotide synthesis.Methylenetetrahydrofolate reductase(MTHFR) is an important folate metabolizing enzyme that catalyzes methylenetetrahydrofolate into 5-methyltetrahydrofolate,which is the methyl donor for remethylation of homocysteine to methionine.Certain common polymorphisms within the MTHFR gene(C677T,A1298C) result in reduced enzymatic activity and have been associated with reduced risk for a variety of disease.According to former experiments,MTHFR polymorphisms are associated with lung cancer which is also affected with lots of other elements.This article summarized several conclusions of different experiments involving MTHFR polymorphisms and lung cancer.
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