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).
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
