✦ LIBER ✦

Did the GJB2 35delG mutation originate in Iran?

✍ Scribed by Vahideh Norouzi; Hiva Azizi; Zohreh Fattahi; Fatemehsadat Esteghamat; Niloofar Bazazzadegan; Carla Nishimura; Nooshin Nikzat; Khadijeh Jalalvand; Kimia Kahrizi; Richard. J. H. Smith; Hossein Najmabadi

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 400 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34225

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✦ Synopsis

Abstract

Mutations in GJB2 are a major cause of autosomal recessive non‐syndromic hearing loss (ARNSHL) in many populations. A single mutation of this gene (35delG) accounts for approximately 70% of GJB2 mutations that are associated with ARNSHL in Caucasians in many European countries and also in Iranian. In this study, we used PCR and restriction digestion to genotype five single nucleotide polymorphisms (SNPs) that define the genetic background of the 35delG mutation over an interval of 98 Kbp that includes the coding and flanking regions of GJB2. Two microsatellite markers, D13S175 and D13S141, were also analyzed in patients and controls. These data suggest that the 35delG mutation originated in northern Iran. © 2011 Wiley‐Liss, Inc.

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