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Determination and allelic allocation of seven nucleotide transitions within the arylamine N ‐acetyltransferase gene in the Polish population
Author(s) -
Mrozikiewicz Przemyslaw M.,
Cascorbi Ingolf,
Brockmöller Jürgen,
Roots Ivar
Publication year - 1996
Publication title -
clinical pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 188
eISSN - 1532-6535
pISSN - 0009-9236
DOI - 10.1016/s0009-9236(96)90104-6
Subject(s) - genotype , genetics , allele , biology , polymerase chain reaction , arylamine n acetyltransferase , gene , population , allele frequency , polymorphism (computer science) , mutation , microbiology and biotechnology , medicine , environmental health
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: