New CYP2A6 gene deletion and conversion variants in a population of Black African descent.

ABSTRACT:

Aims

Cytochrome P450 2A6 (CYP2A6) is a human enzyme best known for metabolizing nicotine and nitrosamine precarcinogens. Our aim was to discover and characterize new CYP2A6 alleles in a population of Black African descent.

Materials & methods

We used cloning, sequencing and genotyping of genomic DNA to discover new variants, and in vivo nicotine pharmacokinetic phenotyping to characterize the functional effect of the new alleles.

Results

Four new CYP2A6 alleles, CYP2A6*4G, *4H, *1B4 and *1L, were discovered and characterized in a population of Black African descent. The two new deletion alleles, CYP2A6*4G and *4H, are distinguished by different crossover junctions at 7.9 and 7.8 kb downstream of the CYP2A6 +1ATG start site, respectively; their combined allele frequenc

SUBMITTER: Mwenifumbo JC 

PROVIDER: S-EPMC2922202 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature