Report of a new mutation and frequency of connexin 26 gene (GJB2) mutations in patients from three provinces of Iran

Hosseinipour, A. and Chaleshtori, M.H. and Sasanfar, R. and Farhud, D.D. and Tolooi, A. and Doulati, M. and Rad, L.H. and Montazer Zohour, M. and Ghadami, M. (2005) Report of a new mutation and frequency of connexin 26 gene (GJB2) mutations in patients from three provinces of Iran. Iranian Journal of Public Health, 34 (1). pp. 47-50.

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Abstract

Autosomal recessive and sporadic non-syndromic hearing loss (ARSNSHL) is the major form of hereditary deafness. Mutations in the GJB2 gene encoding the gap-junction protein Connexin 26 have been identified to be highly associated with ARSNSHL. In this study we have analyzed 196 deaf subjects from 179 families having one or more deaf children in 3 proviences of Iran, including Kordestan, Khuzestan and Golestan. The nested PCR prescreening strategy and direct sequencing technique were used to detect the mutations in coding exon of the gene. Altogether 3 GJB2 recessive mutations including 35delG, 167delT and V27I+E114G, were identified in 23 of 179 families (12.8). Fourteen of 179 families were observed to have GJB2 mutation in both alleles (7.8). A novel variant (R159H) also was found in a deaf family from Khuzestan. Four polymorphisms V27I, E114G, S86T and V153 I also were detected in 7 families. A polymorphism(S86T) was seen in the whole population studied. Our data indicated that the rate of connexin 26 mutations is different in this three Irainian population and is lower than the high frequency of 35delG (26) reported from Gilan province in the north of Iran.

Item Type: Article
Additional Information: cited By
Uncontrolled Keywords: connexin 26, adolescent; adult; article; autosomal recessive inheritance; child; controlled study; exon; family; gene frequency; gene mutation; gene sequence; genetic code; genetic polymorphism; genetic variability; geography; hearing loss; human; Iran; major clinical study; mutational analysis; nucleotide sequence; polymerase chain reaction; population genetics
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Faculty of Medicine > Basic Sciences Academic Groups > Department of Biochemistry and Genetics
Depositing User: zahra bagheri .
Date Deposited: 21 Aug 2017 09:00
Last Modified: 21 Aug 2017 09:00
URI: http://eprints.skums.ac.ir/id/eprint/3450

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