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Arch Toxicol. 1998 Mar;72(4):215-8.

High frequency of CYP1A1 mutations in a Turkish population.

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  • 1Institute of Clinical Pharmacology, University Clinic Charité, Humboldt University of Berlin, Germany.


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.

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