Cystic fibrosis (CF) is the most common severe autosomal genetic disorder in the white population. The disease is caused by mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene [1-3]. The CFTR gene is located on the long arm of chromosome 7 and has 27 exons scattered over a region of about 230 kb [4-6]. CFTR protein function as a cAMP-regulated chloride channel that is normally located in the apical membranes of epithelial cells lining excretory ducts of all exocrine glands [1-8]. More than 1000 different mutations have been identified in the CFTR gene, most of which occur rarely [1]. However, there is evidence that each ethnic group  has  a specific spectrum of CFTR mutations, some of which are major [3, 9-13]. Undoubtedly, determination of regional specificity of CF epidemiology in Bashkortostan and analysis of the spectrum of mutations causing this disease is an important scientific problem and has practical implications for health care.
 Here we present data on mutations and intragenic polymorphic haplotypes in the CFTR gene for CF families from Bashkortostan. The aim of our study was to identify the most common mutations and create a CF-screening programme that  would enable complete CF mutations detection among our patients.
 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. We also used SSCP-analysis for exons 3, 7, 10, 11, 13, 19 and 20, to find other  mutations.
In order to contribute  to a better understanding of the dispersion of CFTR mutations in  Bashkortostan two  diallelic SNP (M470V, TUB20) and three microsatellites STR (IVS6aGATT, IVS8CA, IVS17CA)  intragenicmarkers were analyzed for 169 normal chromosomes, 26 delF508 and 72 non-delF508 chromosomes.  The combination of  both types of markers provides  useful information regarding the origin and evolution of CFTR mutations. Haplotypic data were provided for 15 known CFTR mutations, which should be useful in diagnosis by haplotypic analysis and detection of the associated mutations.