MUTATION AND HAPLOTYPE ANALYSIS OF THE CFTR GENE IN CYSTIC FIBROSIS FAMILIES FROM BASHKORTOSTAN
Korytina G.F., Victorova T. V., Khusnutdinova E. K. Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia
*Corresponding Author: Ph.D Korytina G. F, Prospect Oktyabrya, 69, 450054, Ufa, Russia; Tel +07(3472)355255; Fax: +07(3472)356088; E-mail: Guly_Kory@mail.ru
page: 41

Abstract

A total of 15 different mutations were detected in 80 cystic fibrosis families from Bashkortostan. The most frequent being delF508 (35.0%), followed by 394delTT (3.13%), CFTRdele2,3(21kb) (1.25%), R334W (1.25%), G542X (0.62%), 2184insA (0.62%), S1196X (0.62%), 3849+10kbT>C (1.25%), W1282X (0.62%), N1303K (1.25%), I488M (0.62%),1811+12A C (1.25%), T663S (1.25%), I1226R ( 0.62%), 4005+9A>C (0.62%). The study proved haplotypic M470V-TUB20-IVS6aGATT-IVS8CA-IVS17CA data for 15 known CFTR mutations, which should be useful in diagnosis by haplotypic analysis and detection of the associated mutations. The frequency of the 2-2-7-7-7 haplotype, which is most common on normal chromosomes, did not exceed 11.0%, which is consistent with the data for the European populations. Analysis of the haplotypes on CF chromosomes with unknown mutations has showed that the 2-2-7-7-7 haplotype was most frequent (26.9%). It seems likely that CF patients from Bashkortostan, possess specific CFTR gene defect associated with the given haplotype. The different haplotypes found on CF chromosomes with unknown mutations suggest that most of unknown CF alleles carry different mutations. The CFTR gene analysis confirmed the high heterogeneity of our CF population, which could be explained by the complex ethnic composition of the Bashkortostan population, resulting from the mixing of different ethnical genetic pools (European and Asian).



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