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Did the GJB2 35delG mutation originate in Iran?
Author(s) -
Norouzi Vahideh,
Azizi Hiva,
Fattahi Zohreh,
Esteghamat Fatemehsadat,
Bazazzadegan Niloofar,
Nishimura Carla,
Nikzat Nooshin,
Jalalvand Khadijeh,
Kahrizi Kimia,
Smith Richard. J. H.,
Najmabadi Hossein
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34225
Subject(s) - genetics , mutation , biology , genotype , coding region , single nucleotide polymorphism , gene
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.