title: [Screening of mutations of deafness-related genes in women of child-bearing age from Shijiazhuang area].
abstract: OBJECTIVE
  To screen for mutations of deafness-related genes among ethic Chinese women of child-bearing age.
  
  
  METHODS
  In 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip.
  
  
  RESULTS
  Twenty women (6.17%) have carried mutations. These included 11 (3.40%) carrying a GJB2 gene mutation, 7 (2.16%) carrying a SLC26A4 gene mutation, 1 (0.31%) simultaneously carrying GJB3 and GJB2 gene mutations, and 1 (0.31%) carrying a mtDNA 12s rRNA gene mutation.
  
  
  CONCLUSIONS
  Women of child-bearing age have a high rate for carrying mutations of common deafness-related genes, among which 235delC in GJB2 was most common. Prenatal screening of couples with normal hearing is an effective way to prevent birth of affected children.
authors.affiliation: Prenatal Diagnosis Center, Third Department of Obstetrics, The Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei 050011, China. Email: pyyduck@163.com.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Peng
authors.forename: Donglan
authors.initials: D
authors.lastname: Sun
authors.forename: Lijuan
authors.initials: L
authors.lastname: Zhao
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xia
authors.initials: X
authors.lastname: Zhao
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; C068044:GJB3 protein, human