Arylamine N-acetyltransferase (NAT2) genotypes in Africans: the identification of a new allele with nucleotide changes 481C>T and 590G>A

Pharmacogenetics. 2003 Jan;13(1):55-8. doi: 10.1097/00008571-200301000-00008.

Abstract

This study was carried out to characterize the distribution of NAT2 allelic variants among a sample of three African populations. We determined the frequencies of major NAT2 allele clusters (NAT2*4, *6, *7 and *14) using PCR/restriction fragment length polymorphism and sequencing techniques. The genotypes predict slow acetylator phenotypes of 49, 38 and 52% among Tanzanians, Venda and Zimbabweans, respectively. The most common genotype was NAT2*4/*5. NAT2* 5 was the most common allele while NAT2* 7 was the least common. A new allele with two base changes occurring together, 481C>T and 590G>A, is reported. The frequency of the occurrence of the combination 481C>T and 590G>A, was found to be 9% (30/326), 7% (14/192) and 8% (18/234) among Zimbabweans, Venda and Tanzanians, respectively. The allele has been named NAT2*6E. Among Africans, the change 481C>T is not only associated with 341C>T (i.e. the NAT2* 5 allele cluster) as in other populations, but also with 590G>A on the same allele.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • African Continental Ancestry Group / genetics*
  • Alleles*
  • Arylamine N-Acetyltransferase / genetics*
  • Arylamine N-Acetyltransferase / metabolism
  • Genotype
  • Humans
  • Point Mutation
  • Polymorphism, Restriction Fragment Length
  • Restriction Mapping

Substances

  • Arylamine N-Acetyltransferase