A rapid method of screening for N-acetyltransferase (NAT2) phenotype by use of the WAVE DNA fragment analysis system

Aileen Osborne, Christine Bell, Faye Grant, Finlay David Dick, Anthony Seaton, Neva Elizabeth Haites

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

N-Acetyltransferase 2 (NAT2) is involved in Phase II biotransformation of a variety of toxicants. Polymorphisms in the NAT2 gene result in a slow acetylator phenotype, which has been associated with various cancers and neurodegenerative diseases. To date most studies investigating NAT2 genotype/phenotype have adopted an RFLP approach, which is both expensive and time-consuming. Using the Wave DNA fragment analysis system, we have developed a fast and robust method of identifying two polymorphisms (C282T and T341C) of the NAT2 gene which allows identification of the most common slow acetylator alleles found in Caucasian populations: NAT2*5, NAT2*6, NAT2*7, and NAT2*14. This was done by comparing phenotype status in 126 samples genotyped by RFLP analysis and also by Wave analysis for the polymorphisms C282Tand T341C. All 126 samples analyzed by both RFLP and Wave analysis gave consistent phenotype results and 100% correlation was achieved between the two methods.
Original languageEnglish
Pages (from-to)405-11
Number of pages7
JournalBiochemical Genetics
Volume41
Issue number11-12
DOIs
Publication statusPublished - 1 Dec 2003

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acetyltransferases
Acetyltransferases
systems analysis
rapid methods
phenotype
Screening
screening
Phenotype
DNA
polymorphism
Polymorphism
Restriction Fragment Length Polymorphisms
restriction fragment length polymorphism
gene
genetic polymorphism
biotransformation
cancer
allele
genotype
Genes

Keywords

  • Arylamine N-Acetyltransferase
  • European Continental Ancestry Group
  • Heteroduplex Analysis
  • Humans
  • Phenotype
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Sequence Analysis, DNA
  • NAT2
  • WAVE DNA fragment analysis
  • genotyping
  • RFLP analysis

Cite this

A rapid method of screening for N-acetyltransferase (NAT2) phenotype by use of the WAVE DNA fragment analysis system. / Osborne, Aileen; Bell, Christine; Grant, Faye; Dick, Finlay David; Seaton, Anthony; Haites, Neva Elizabeth.

In: Biochemical Genetics, Vol. 41, No. 11-12, 01.12.2003, p. 405-11.

Research output: Contribution to journalArticle

Osborne, Aileen ; Bell, Christine ; Grant, Faye ; Dick, Finlay David ; Seaton, Anthony ; Haites, Neva Elizabeth. / A rapid method of screening for N-acetyltransferase (NAT2) phenotype by use of the WAVE DNA fragment analysis system. In: Biochemical Genetics. 2003 ; Vol. 41, No. 11-12. pp. 405-11.
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abstract = "N-Acetyltransferase 2 (NAT2) is involved in Phase II biotransformation of a variety of toxicants. Polymorphisms in the NAT2 gene result in a slow acetylator phenotype, which has been associated with various cancers and neurodegenerative diseases. To date most studies investigating NAT2 genotype/phenotype have adopted an RFLP approach, which is both expensive and time-consuming. Using the Wave DNA fragment analysis system, we have developed a fast and robust method of identifying two polymorphisms (C282T and T341C) of the NAT2 gene which allows identification of the most common slow acetylator alleles found in Caucasian populations: NAT2*5, NAT2*6, NAT2*7, and NAT2*14. This was done by comparing phenotype status in 126 samples genotyped by RFLP analysis and also by Wave analysis for the polymorphisms C282Tand T341C. All 126 samples analyzed by both RFLP and Wave analysis gave consistent phenotype results and 100{\%} correlation was achieved between the two methods.",
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AU - Haites, Neva Elizabeth

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