ANALYSIS OF SOME POLYMORPHIC MARKERS OF T HE CFTR GENE IN CYSTIC-FIBROSIS PATIENTS AND HEALTHY DONORS FROM THE MOSCOW REGION

Allelic frequencies at three polymorphic markers in the CFTR gene were detected on chromosomes derived from cystic fibrosis (CF) patients an d healthy donors from Moscow and the Moscow region. These polymorphic markers are tetranucleotide tandem repeats GATT in intron 6B, M470V in exon 10, and T854T in exon 14 (fragment A). Frequencies at allele 1 o f the M470V marker, along with allele 2 of GATT and T854T, are two tim es higher for CF patients without Delta F508 mutation than for healthy donors, and there is linkage disequilibrium of these alleles of the p olymorphic markers analyzed with the CF gene. Allele 1 of M470V and T8 54T markers, as well as allele 2 of the GATT marker (six repeats), are absolutely linked to mutation F508 of the CFTR gene. Using the polymo rphic markers studied, family analysis of CF was carried out in two fa milies.