Paper Information

Journal:   IRANIAN JOURNAL OF PUBLIC HEALTH   2004 , Volume 33 , Number 2; Page(s) 14 To 19.
 
Paper: 

TWO NOVEL MUTATIONS AND PREDOMINANT 35DELG MUTATION IN THE CONNEXIN 26 GENE (GJB2) IN IRANIAN POPULATIONS

 
 
Author(s):  HASHEMZADEH CHALESHTORI M.*, DOWLATI M., FARHOUD D.D., HOGHOOGHI RAD L., SASANFAR R., HOSEINIPOUR A., MONTAZER ZOHOUR M., TOLOOI A., GHADAMI M., POURJAFARI H.R., OSHAGHI M.A., PATTON M.A.
 
* DEPT. OF HUMAN GENETICS, SCHOOL OF PUBLIC HEALTH, TEHRAN UNIVERSITY OF MEDICAL SCIENCES, IRAN
 
Abstract: 
Mutations in the GJB2 gene encoding Connexin 26 (Cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. In this study we have investigated the prevalence of the GJB2 gene mutations using nested PCR pre screening strategy and direct sequencing method. Two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from 199 families in two provinces of Iran (Gilan and Khorasan) were studied. Altogether 14 different genetic variants were identified from which 2 were novel variant (327delG+G109G and 431insC). Eight GJB2 mutations including 35delG, 235delC, W77X, R127H, M34T, V27I+E114G, L90P and delE120 were also found in 54 of 199 families (27%). Four polymorphysms V27I, S86T, V153I and G160S also were detected. Thirty two of 199 families were observed to have GJB2 mutations in both alleles (16%). The most common mutation was 35delG so that 43 out of 55 GJB2 mutations (78.2%) contained 35delG mutation.
 
Keyword(s): CONNEXIN 26, GJB2, DEAFNESS, ARNSHL, IRAN
 
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