CYP1A1 MUTATIONS 4887A, 4889G, 5639C AND 6235C IN THE POLISH POPULATION AND THEIR ALLELIC LINKAGE, DETERMINED BY PEPTIDE NUCLEIC ACID-MEDIATED PCR CLAMPING

Mutations in the CYP1A1 gene were investigated in 324 Polish children and adolescents using PCR/RFLP. Mutation T6235C (mi) 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 CYP1A11 was found in 91.4% (88.3%-93.4%), In all c ases 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 indivi duals with an m2 mutation also had mi on the same allele (CYP1A12B). Allele CYP1A12A, carrying only m1, appeared in 4.5% (3.0%-6.4%). In t he single case of m1/m4, these mutations were placed on distinct allel es, CYP1A1 mutations in the Polish sample tended to be less frequent t han in other Caucasian groups.