title: Did the GJB2 35delG mutation originate in Iran?
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.
authors: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors: Vahideh
authors: V
authors: Norouzi
authors: Hiva
authors: H
authors: Azizi
authors: Zohreh
authors: Z
authors: Fattahi
authors: Fatemehsadat
authors: F
authors: Esteghamat
authors: Niloofar
authors: N
authors: Bazazzadegan
authors: Carla
authors: C
authors: Nishimura
authors: Nooshin
authors: N
authors: Nikzat
authors: Khadijeh
authors: K
authors: Jalalvand
authors: Kimia
authors: K
authors: Kahrizi
authors: Richard J H
authors: RJ
authors: Smith
authors: Hossein
authors: H
authors: Najmabadi
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004641:Emigration and Immigration / Q000266:history*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005828:Genetics, Population; D034381:Hearing Loss / Q000208:ethnology* / Q000235:genetics*; D049690:History, Ancient; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26