Open AccessMTHFR rs1801133 polymorphism in Bangladeshi population – its prevalence and detection
Author(s) -
Sumaiya Farah Khan,
Mahmuda Akter,
Shayan Shahriar,
Amzad Hossain,
Abu Ashfaqur Sajib
Publication year - 2020
Publication title -
asia-pacific journal of molecular biology and biotechnology/asia pacific journal of molecular biology and biotechnology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.137
H-Index - 19
eISSN - 2521-9839
pISSN - 0128-7451
DOI - 10.35118/apjmbb.2020.028.4.08
Subject(s) - methylenetetrahydrofolate reductase , genotype , locus (genetics) , allele , genetics , population , biology , allele frequency , genotype frequency , polymerase chain reaction , medicine , gene , environmental health
Methylenetetrahydrofolate reductase (MTHFR) has been reported as a key enzyme not only for intracellular folate homeostasis but also for metabolism. A particular variant (G677A) leads to an altered amino acid, which ultimately causes decreased enzyme activity and may modulate the risk of causing several chronic diseases. The purpose of this study was to detect the pervasiveness of this variant MTHFR rs1801133 G677A in the Bangladeshi population. We applied allele-specific polymerase chain reaction (AS-PCR) to determine the genotypes at the rs1801133 in the Bangladeshi population. We performed targeted sequencing of the AS-PCR product of randomly selected samples. Out of the 181 Bangladeshi individuals, 71.8% had homozygous 677GG genotype, while 28.2% comprised of heterozygous 677GA genotype. No individual with the homozygous 677AA genotype was found in this representative Bangladeshi population. The 677G alleles had higher frequency (0.856) compared to 677A alleles (0.144) at the rs1801133 locus. Though the more risky homozygous 677AA genotype at the rs1801133 locus is absent in the Bangladeshi population, further association studies can be performed to identify the role of MTHFR mutation in the susceptibility to different multifactorial diseases.