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% ; *78 (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.
Mots-clés Pascal : Pharmacogénétique, Génétique, Arylamine N-acetyltransferase, Acyltransferases, Transferases, Enzyme, Génotype, Mutation, Phénotype, Enfant, Homme, Pologne, Europe, Epidémiologie moléculaire
Mots-clés Pascal anglais : Pharmacogenetics, Genetics, Arylamine N-acetyltransferase, Acyltransferases, Transferases, Enzyme, Genotype, Mutation, Phenotype, Child, Human, Poland, Europe, Molecular epidemiology
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0250834
Code Inist : 002B02A05. Création : 199608.