title: High frequency of CYP1A1 mutations in a Turkish population.
abstract: The frequency distribution of four cytochrome P4501A1 (CYP1A1) gene mutations was investigated in 271 Turks from southeast Anatolia by polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assay. Allelic linkage of those mutations was proven by peptide nucleic acid-mediated PCR clamping. Mutation ml (T6235C) forming an MspI restriction site in the 3'-flanking region occurred with 18.1% frequency (95% confidence interval 14.9-21.6%), m2 (A4889G) leading to an Ile/Val exchange in exon 7 had a frequency of 8.9% (6.6-11.6%), and m4 (C4887A; Thr/Asn-exchange also in exon 7) occurred with 5.7% (3.9-8.0%). T5639C (m3) in the 3'-flanking region was not detected. m2 was exclusively found linked with ml forming allele CYP1A1*2B. The frequency of this allele supposedly at-risk for lung cancer was significantly higher than in Middle European populations, but lower than in the Far East.
authors.affiliation: Institute of Clinical Pharmacology, University Clinic Charité, Humboldt University of Berlin, Germany.
authors.forename: A S
authors.initials: AS
authors.lastname: Aynacioglu
authors.forename: I
authors.initials: I
authors.lastname: Cascorbi
authors.forename: P M
authors.initials: PM
authors.lastname: Mrozikiewicz
authors.forename: I
authors.initials: I
authors.lastname: Roots
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014421:Turkey
chemical_list: D019363:Cytochrome P-450 CYP1A1