title: CYP1A1 mutations 4887A, 4889G, 5639C and 6235C in the Polish population and their allelic linkage, determined by peptide nucleic acid-mediated PCR clamping.
abstract: Mutations in the CYP1A1 gene were investigated in 324 Polish children and adolescents using PCR/RFLP. Mutation T6235C (m1) occurred in 6.6% of alleles (95& confidence limits 4.8%-8.8%); A4889G (m2), 2.2% (1.2%-3.6%); and C4887A (m4), 2.0% (1.1%-3.4%). T5639C (m3) was not detected. Wild-type allele CYP1A1*1 was found in 91.4% (88.9%-93.4%). In all cases of theoretically possible mutation linkages, the novel method of allele specific polymerase chain reaction-clamping mediated by peptide nucleic acids was applied to define allelic allocation. All 14 individuals with an m2 mutation also had m1 on the same allele (CYP1A1*2B). Allele CYP1A1*2A, carrying only m1, appeared in 4.5% (3.0%-6.4%). In the single case of m1/m4, these mutations were placed on distinct alleles. CYP1A1 mutations in the Polish sample tended to be less frequent than in other Caucasian groups.
authors.affiliation: Institute of Clinical Pharmacology, University Clinic Charité, Humboldt University of Berlin, Germany.
authors.forename: P M
authors.initials: PM
authors.lastname: Mrozikiewicz
authors.forename: I
authors.initials: I
authors.lastname: Cascorbi
authors.forename: J
authors.initials: J
authors.lastname: Brockmöller
authors.forename: I
authors.initials: I
authors.lastname: Roots
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D009838:Oligodeoxyribonucleotides / Q000378:metabolism*; D010455:Peptides / Q000235:genetics*; D011044:Poland; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D011897:Random Allocation
chemical_list: D009838:Oligodeoxyribonucleotides; D010455:Peptides; D019363:Cytochrome P-450 CYP1A1