title: Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR.
abstract: BACKGROUND
  Hearing loss is a serious sensory defect in the world. Mutations in the GJB2 and GJB6 genes are the major causes of autosomal recessive nonsyndromic hearing loss (NSHL). Recently, three major large deletions in the GJB6 gene including del(GJB6-D13S1830), del(GJB6-D13S1854), and a > 920 kb deletion have been reported to form double heterozygosity with GJB2. This may suggest that deletions involving GJB6 may be responsible for some NSHL.
  
  
  METHODS
  We designed a real time SYBR green-based PCR to quantify a common deleted region in GJB6 gene. The amplified region covers the area which has been seen to be deleted in all of the above reports. We selected nine families heterozygous for different mutations in GJB2 gene to investigate the presence of deletions in the GJB6 gene. The samples were run along with controls for normal hearing and heterozygous and homozygous for GJB2 mutations to optimize our method. As a reference gene or external standard, a segment of the CLCN7 gene was also quantified as well.
  
  
  RESULTS
  We did not detect any deletion in the GJB6 gene.
  
  
  CONCLUSIONS
  Using this method, any deletion involving GJB6 gene can be detected in a rapid and sensitive way.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
authors.forename: Nejat
authors.initials: N
authors.lastname: Mahdieh
authors.forename: Marzieh
authors.initials: M
authors.lastname: Raeisi
authors.forename: Atefeh
authors.initials: A
authors.lastname: Shirkavand
authors.forename: Hamideh
authors.initials: H
authors.lastname: Bagherian
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
mesh_terms: D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D005784:Gene Amplification; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007492:Iran; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26