title: Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.
abstract: OBJECTIVE
  DFNB1 locus has been reported as a major cause of autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. 35delG and del(GJB6-D13S1830) are thought to be two common mutations in this locus among Caucasians. The aim of this study is to determine the significance of these two mutations in aetiology of ARNSHL in Iran.
  
  
  METHODS
  One hundred and thirty-three unrelated patients with ARNSHL were tested by using multiplex allele-specific PCR assay after validation by positive control samples.
  
  
  RESULTS
  The frequency of 35delG was about 18.5%, however, del(GJB6-D13S1830) was not found in the studied patients. Parental consanguinity was observed in 50% of 35delG-mutated families.
  
  
  CONCLUSIONS
  Our results support founder effect regarding these mutations.
authors: Genetic Lab. Drug Applied Research Center, Biotechnology Research Center, Tabriz University of Medical Sciences, University Ave., Tabriz, Iran.
authors: Mohsen
authors: M
authors: Esmaeili
authors: Mortaza
authors: M
authors: Bonyadi
authors: Mohammad
authors: M
authors: Nejadkazem
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D006147:Guanine; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26; D006147:Guanine