Gene

Biology

Linkage disequilibrium

Environmental health

Single-nucleotide polymorphism

Methylenetetrahydrofolate reductase

Genetics

Allele frequency

Genotype

Population

Medicine

Allele

Genotype frequency

Medical Archives

Background: The gene for 5,10-methylenetetrahydrofolate reductase (NAD(P)H) or MTHFR gene encodes protein methylenetetrahydrofolate reductase (MTHFR), an enzyme important in folate metabolism.Aim: The aim of this study was to determine the frequencies of 677C>T and 1298A>C polymorphisms in the MTHFR gene of healthy subjects from the population.Material and methods: The blood samples were collected from 164 unrelated and healthy donors from population consisted of 98 females and 66 males.Both the MTHFR 677C>T and 1298A>C single nucleotide polymorphisms (SNPs) were ana lyzed by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Linkage disequilibrium (LD) between pair of SNPs was calculated through Haploview analysis.Results: The frequency of MTHFR 677T allele in the population (32.62%) was in agreement with the frequency of this allele in most other populations, however, the frequency of MTHFR 1298C allele (38.41%) was higher than that reported for most other populations in the world.Haploview analysis showed a relatively strong LD between 677C>T and 1298A>C SNPs with D′ values of 0.87.Conclusion:Regarding the two MTHFR polymorphisms, three of the nine combined genotypes were present in 87.2% of the population.33.54% subjects were complex heterozygous (677CT/1298AC genotype), 34.15% subjects had 677CC/1298AC and 19.51% of 677CT/1298AA genotype.The subjects with 677TT genotype had a 1298AA or 1298AC genotype while subjects with 1298CC genotype had only 677CC genotype.The subjects with 677CC/1298AA genotype were only 3.05%.We were not found triple 677CT/1298CC and quadruple 677TT/1298CC mutation suggesting decreased viability of embryos with increased numbers of mutant alleles.

The Frequency of the 677C&gt;T and 1298A&gt;C Polymorphisms in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in the Population

The Frequency of the 677C&gt;T and 1298A&gt;C Polymorphisms in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in the Population

The Frequency of the 677C>T and 1298A>C Polymorphisms in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in the Population