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

Clinical Pharmacology and Therapeutics
P M MrozikiewiczI Roots

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.

References

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Citations

Jun 4, 2005·BMC Genetics·Audrey Sabbagh, Pierre Darlu
Feb 29, 2008·BMC Genetics·Audrey SabbaghEstella S Poloni
Feb 12, 2013·Pharmacogenomics·Naazneen KhanAparup Das
Mar 15, 2006·International Journal of Dermatology·Muradiye NacakA Sukru Aynacioglu
May 21, 1999·Drug Metabolism Reviews·I CascorbiI Roots
Jan 1, 1999·Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals· Necat Yilmaz A Sukru Aynacioglu Binnur Erbagci Ingolf Cascorbi Ivar Roots
Feb 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Audrey Sabbagh, Pierre Darlu
Jan 20, 1998·Clinical Pharmacology and Therapeutics·E ZielińskaG Rebowski
Dec 21, 2002·British Journal of Clinical Pharmacology·Muradiye NacakIvar Roots
Jul 12, 2018·BioMed Research International·Recep Dursunİlknur Çınar
Jul 18, 2009·Archives of Medical Research·Andrzej PawlikBarbara Gawronska-Szklarz

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