Materials.  We have analysed a total of 125 unrelated patients and members of their families (375 individuals) from medical genetic consultation center of the Republican Hospital, Republican Children's Hospital, and Emergency Hospital, Ufa, Bashkortostan   for   molecular CF analysis from 2000 year.  But only 80 unrelated  CF families (240 individuals), with least one affected child  with a confirmed diagnosis  of CF based on clinical features and positive sweat test  (CI>60 mmol/L) are included to CF registry of Bashkortostan.
Moreover, we have analysed 35 unrelated healthy families (105 individuals).
Methods. Genomic DNA was isolated from 10 ml of peripheral blood by phenol-chloroform extraction [14].
 CFTR gene mutations analysis.We have screened 160 CF chromosomes for 18 previously reported mutations (delF508, 1677delTA CFTRdele2,3(21kb), 394delTT, 1154insTC, R347P, R334W, G542X, G551D, R553X, S549N, 2184insA, 2143delT, S1196X, 3737delA,  3849+10kbC → T, W1282X, N1303K) and  we also used
 SSCP-analysis for exons 3, 7, 10, 11, 13, 19 and 20,  us described previously [15].  All  DNA samples displaying  a shift from normal behaviour were sequensed  us described previously [15].   
Analysis of five polymorphic  loci. Genomic DNA from 345 individuals was amplified by polymerase chain reaction (PCR) according to standart  protocol [ 15-17].  The two diallelic SNP markers  - M470V/ HphI and TUB20/PvuI are located in exon 10 and intron 20.  The markers were analysed by differences in the mobility of PCR products on polyacrylamide gels.
The microsatellites IVS6aGATT, IVS8CA and IVS17CA were studied  us described previously [18-20 ]. The size of STR  alleles  were determined using control samples with known allelic sizes that had been given by  Professor  V.S. Baranov (Institute for Obstetrics and Gynecology, St. Peterburg).
    All of two SNP (M470V, TUB20) and three STR (IVS6aGATT, IVS8CA, IVS17CA)  intragenichaplotypes  were ascertained from  the individual pedigrees. The measure of haplotype frequency and diversity was calculated using the ARLEQUIN v. 2.0 software program [21]. Comparison of the haplotype frequency on normal and mutant chromosomes was carried out using χ2 -test with Yates' correction [21-23].