GJB2 MUTATIONS IN NON SYNDROMIC HEARING LOSS IN THE REPUBLIC OF MACEDONIA
Sukarova Stefanovska E1, Momirovska, A2,3, Cakar M4, Efremov GD1,*
*Corresponding Author: Georgi D. Efremov, Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Blv. Krste Misirkov 2, 1000 Skopje, R. Macedonia; Tel.: +389-2-32-35-411; fax: +389-2-31-15-434; E-mail: gde@manu.edu.mk
page: 11
download article in pdf format

Abstract

Hearing impairment is a common sensori-neural disorder with the incidence of profound deafness in one per 1,000 births. Non syndromic recessive deaf­ness (NSHL), accounts for approximately 80% of cases of hereditary deafness. It is extremely hetero­geneous genetically with over 130 gene loci. Muta­tions in the GJB2 and GJB6 genes for DFNB1 locus (13q12) are responsible for about half of all cases of autosomal recessive prelingual hearing loss.

We determined the prevalence and mutations in the GJB2 gene, and the presence of delD13S1830 in the GJB6 gene in DNA samples from 33 unrelated Macedonian families with recesive NSHL and 200 normal hearing individuals using single-strand con­formation polymorphism (SSCP) analysis followed by direct sequencing and specific polymerase chain reaction (PCR).

We found mutations in the GJB2 gene in 12 pa­tients, but no delD13S1830 in the GJB6 gene. In 22 chromosomes, 15 (68.2%) had the 35delG mutation, four (6.1%) W24X, two (3.0%) V37I and one (1.5%) R127H.

Because of the high mutation rate (36.4%) in the GJB2 gene in NSHL patients, testing should be per­formed in all cases with prelingual deafness.

Key words: Deafness, Non syndromic hearing loss (NSHL), GJB2 Gene, Connexin 26, Mutations, 35delG

_________________________________________________________________

 Research Center for Genetic Engineering and Bio­technology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia Adrialab-Synlab, Polyclinic for Laboratory Medi­cine, Skopje, Republic of Macedonia Association of Deaf and Hard of Hearing, Skopje, Republic of Macedonia

Audiology center, Otorhinolaryngology Clinic, Sko­pje, Republic of Macedonia mutated




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

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006