Determination and allelic allocation of seven nucleotide transitions within the arylamine N-acetyltransferase gene in the Polish population

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Abstract
The frequency of various genotypes of arylamine N‐acetyltransferase (NAT2) was investigated in 248 Polish unrelated children. Allele‐specific polymerase chain reaction (PCR) was applied for mutation at 341 nucleotide (nt) of NAT2 coding sequence and PCR/restriction fragment length polymorphism for the other mutations. Genotypes coded for slow acetylation in 62.9% (56.6% to 68.9%). The frequency of specific NAT2 alleles was *4 (wild‐type), 22.0%; *5A (341C, 481T), 5.2%; *5B (341C, 481T, 803G), 33.1%; *5C (341C, 803G), 6.0%; *6A (282T, 590A), 30.0%; *7B (282T, 857A), 3.4%; and *12A (803G), 0.2%. No mutations were found at 191, 434, and 845 nt. By a molecular‐genetic procedure, genotypes *4/*6A were confirmed not to mask *6B/*13 (590A/282T). *6B and *13 were absent in a composite sample representative of 826 alleles (95% confidence limits, 0% to 0.45%). Five cases of genotype‐phenotype discrepancy were sequenced and their mutation allocation confirmed; 21 further genotypes were confirmed by sequencing. This first evaluation of NAT2 genes among a Slavic population should provide a basis for clinical and epidemiologic investigations of NAT2 in the Polish population. Clinical Pharmacology & Therapeutics (1996) 59, 376–382; doi: