title: Determination and allelic allocation of seven nucleotide transitions within the arylamine N-acetyltransferase gene in the Polish population.
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.
authors.affiliation: Institute of Clinical Pharmacology, Charité, Humboldt University of Berlin, Germany.
authors.forename: P M
authors.initials: PM
authors.lastname: Mrozikiewicz
authors.forename: I
authors.initials: I
authors.lastname: Cascorbi
authors.forename: J
authors.initials: J
authors.lastname: Brockmöller
authors.forename: I
authors.initials: I
authors.lastname: Roots
mesh_terms: D000293:Adolescent; D000483:Alleles; D001191:Arylamine N-Acetyltransferase / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000235:genetics; D017354:Point Mutation; D011044:Poland; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D009711:Nucleotides; D001191:Arylamine N-Acetyltransferase