title: Some mutations of exon-7 in cytochrome P450 gene 3A4 and their effect on 6beta-hydroxylation of cortisol.
abstract: Analysis of variants of exon 7 sequences in cytochrome P450 gene 3A4 in a sample of Caucasoid persons was carried out. The effect of these variants on activity of CYP3A was assessed by the level of cortisol 6beta-hydroxylation. Alleles CYP3A4*5 and *17 were not detected: probably, these mutations are rare and consequently they have little effect on the character of polymorphic distribution of CYP3A4 activity in this population. The incidence of CYP3A4*2 was 5.26%. The 6betaOH-cortisol/cortisol ratio in an individual with CYP3A4*2/*2 genotype was 7.408, which corresponded to "slow metabolizer" phenotype in this sample.
authors.affiliation: Institute of Molecular Biology and Biophysics, Siberian Division of the Russian Academy of Medical Sciences, Novosibirsk. elena_shchepotina@rambler.ru
authors.forename: E G
authors.initials: EG
authors.lastname: Shchepotina
authors.forename: V A
authors.initials: VA
authors.lastname: Vavilin
authors.forename: O B
authors.initials: OB
authors.lastname: Goreva
authors.forename: V V
authors.initials: VV
authors.lastname: Lyakhovich
mesh_terms: D051544:Cytochrome P-450 CYP3A; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000378:metabolism; D017931:DNA Primers; D005091:Exons / Q000235:genetics*; D005387:Finland; D005787:Gene Frequency; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism*; D006900:Hydroxylation; D009154:Mutation / Q000235:genetics*; D012800:Siberia; D044465:White People / Q000235:genetics
chemical_list: D017931:DNA Primers; D003577:Cytochrome P-450 Enzyme System; D051544:Cytochrome P-450 CYP3A; C510163:CYP3A4 protein, human; D006854:Hydrocortisone