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Updated: Aug 23, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Arylamine N-acetyltransferase 2 slow acetylator polymorphisms in unrelated Iranian individuals
Valery V Bakayev1, Forozan Mohammadi, Moslem Bahadori
1Department of Pathology, National Research Institute of Tuberculosis and Lung Disease, Shaheed Beheshti University of Medical Sciences and Health Services, Darabad, Tehran, Islamic Republic of Iran. vbakayev@hotmail.com
Objective:
To determine the frequency of mutations at the polymorphic gene coding for arylamine N-acetyltransferase 2 (NAT2, EC 2.3.1.5) and NAT2 genotypes associated with slow acetylation in healthy Iranian individuals.
Methods:
The polymorphisms in the NAT2 gene from 88 unrelated healthy subjects (48 men/40 women) from the general Tehran population were discriminated using polymerase chain reaction (PCR) with allele-specific primers (341 C > T) and PCR-restriction fragment length polymorphism analysis (481 C > T, 590 G > A, and 857 G > A).
Results:
Frequencies of the studied polymorphisms showed the most common alleles to be NAT2*4 (0.43) and NAT2*5, 481 C > T (0.32), followed by NAT2*6 (0.19) and NAT2*7 (0.06), previously referred to as WT, M1, M2, and M3, respectively. The most prevalent genotypes were NAT2*4/*5 [(31.8%; 95% confidence interval (CI): 29-34%] and *4/*4 (18.2%; 95% CI: 16-21%). When grouped according to the expected phenotypical effects, the resulting genotypes revealed the significant prevalence of the subjects with slow (32.9%) and intermediate (48.9%) acetylation status compared with wild-type rapid (18.2%) acetylators (P < 0.01).
Conclusions:
The overall allele pattern and acetylator status distribution in Iranians displayed the considerable prevalence of "slow acetylators" over "rapid acetylators," similar to those of Caucasians except for a minor difference observed in the frequency of the NAT2*7 allele. Nucleic acid testing for common NAT2 mutations might be a potentially useful tool for an accurate phenotype interpretation and identification of Iranian individuals at risk.
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