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High frequency of CYP1A1 mutations in a Turkish population
Authors:A. Sükrü Aynacioglu  Ingolf Cascorbi  Przemyslaw M. Mrozikiewicz  Ivar Roots
Affiliation:(1) Institute of Clinical Pharmacology, University Clinic Charité, Humboldt University of Berlin, Schumannstrasse 20/21, D-10098 Berlin, Germany, DE;(2) Department of Pharmacology, Faculty of Medicine, University of Gaziantep, TR-27310 Gaziantep, Turkey, TR
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 m1 (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 m1 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. Received: 11 September 1997 / Accepted: 10 October 1997
Keywords:Cytochrome P4501A1  CYP1A1  Molecular epidemiology  Peptide nucleic acids  PNA  Turkish population
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