A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients

Hamidi, MOHAMMAD. and Karimipoor, MORTEZA. and Hashemzadeh-Chaleshtori, Morteza. and Akbari, mohammad taghi. (2009) A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients. JOURNAL OF GENETICS, 88 (3). pp. 359-362.

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Abstract

The common form of autosomal recessive non-syndromic deafness is caused by the mutation in gap junction beta 2 (GJB2) gene (GenBank M86849, OMIM# 121011) which is located at the DFNB1 locus at 13q11. GJB2 is a small gene about 5500-bp length with two exons, of which only one contains the coding region (Kelley et al. 2000). The sequence of the coding region consists of 681 bp, encoding a gap-junction protein with 226 amino acids (Schrijver 2004). The genetics of hearing loss is highly heterogeneous and more than 100 mutations in connexin 26 (GJB2) genes are reported to be responsible for 30%–40% of hereditary hearing loss in deaf subjects (Ballana et al. 2001; Schrijver 2004). The most frequent mutation 35delG has been detected in different populations; especially in European countries where it is established to be due to founder effect (Van Laer et al. 2001; Rothrock et al. 2003). In this study, we performed mutation screening in 33 families who met clinical criteria of non-syndromic hereditary hearing loss (NSHHL) to evaluate the type and frequency of GJB2 mutations in Iranian population.

Item Type: Article
Uncontrolled Keywords: hearing loss; connexin 26 (Cx26); gap junction beta-2 (GJB2); 35delG; Iranian population; human genetics
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: zahra bagheri .
Date Deposited: 19 Aug 2017 05:25
Last Modified: 04 Feb 2018 10:56
URI: http://eprints.skums.ac.ir/id/eprint/3134

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