Some mutations of exon-7 in cytochrome P450 gene 3A4 and their effect on 6β-hydroxylation of cortisol
| Autor: | V. A. Vavilin, E. G. Shchepotina, V. V. Lyakhovich, O. B. Goreva |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
medicine.medical_specialty
Hydrocortisone CYP3A Population Biology Hydroxylation White People General Biochemistry Genetics and Molecular Biology chemistry.chemical_compound Exon Cytochrome P-450 Enzyme System Gene Frequency Internal medicine Genotype medicine Cytochrome P-450 CYP3A Humans education Gene Finland DNA Primers Genetics education.field_of_study CYP3A4 Cytochrome P450 Exons General Medicine Siberia Endocrinology chemistry Mutation biology.protein |
| Zdroj: | Bulletin of Experimental Biology and Medicine. 141:701-703 |
| ISSN: | 1573-8221 0007-4888 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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