Genetic polymorphism of NAT1 in local Pakistani population

Abstract

The present research project was designed to determine the genetic polymorphism of N-acetyltransferase 1 (NAT1), the acetylation status in the local Pakistani population because of the genetic polymorphism of drug-metabolizing enzymes constitutes an individual's susceptibility and toxicity for drugs. The normal health status of enrolled volunteers was ensured by their baselines hematological and biochemical studies like CBC, blood cell morphology, LFTs, RFTs Lipid profile and plasma proteins. The acetylation capacity was determined genotypically by PCR-based allele-specific amplification assay and restriction fragment length polymorphism (RFLP) for wild-type and variant alleles. The mutual concordance between the phenotypic and genotypic analysis was determined. The target population showed bimodal distribution based on genotyping. Almost 69% Pakistani local population was found to have fast acetylator alleles/genotype and 30% population with slow acetylator allele/genotype. The interethnic distributions of NAT1 alleles show variability among various populations. Studies should be carried on all possible ethnic divisions to get an insight into varied drug responsiveness in different populations.