title: [Mutation analysis of gene CX31.1 in the hereditary hearing loss pedigrees].
abstract: OBJECTIVE
  To make clear of the relation between CX31.1 and hereditary hearing loss by the mutation detect of gene CX31.1 in nonsyndromic hearing loss pedigrees.
  
  
  METHODS
  Thirty-seven pedigrees of autosomal recessive inheritance hereditary hearing loss and twenty-four pedigrees of autosomal dominant inheritance hereditary hearing loss were collected from decades provinces of China. By using polymerase chain reaction and direct sequence, we screened the members of this pedigrees for the mutations of gene CX31.1.
  
  
  RESULTS
  One polymorphism and one synonymous mutation of gene CX31.1 and two absent pieces in the introns of CX31.1 were found.
  
  
  CONCLUSIONS
  Though we have not found mutations of CX31.1 which can induce corresponding hereditary deafness of the pedigrees inspected before, we don't think we can deny gene CX31.1 is a nosogenesis gene of hereditary hearing loss, and what we can do is to collect enough pedigrees to continue our research.
authors.affiliation: Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, 410008, China. fyong@xysm.net
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
authors.forename: Chufeng
authors.initials: C
authors.lastname: He
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qi
authors.initials: Q
authors.lastname: Li
authors.forename: Dinghua
authors.initials: D
authors.lastname: He
mesh_terms: D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D017630:Connexins; C464674:GJC3 protein, human; D009419:Nerve Tissue Proteins