title: [Screening of common deaf genes in pregnant women and prevention of deafness at birth].
abstract: OBJECTIVE
  To determine the carrier rate for common mutations causing deafness among pregnant women in order to prevent births of deaf children.
  
  
  METHODS
  For 893 pregnant women, 2 mL peripheral venous blood was taken and DNA was extracted. A deafness DNA microarray screening was applied to such samples, and DNA sequencing was applied to husbands of women with positive screening results.
  
  
  RESULTS
  A total of 40 carriers were detected, with the overall mutation rate being 4.48%. Among such carriers, GJB2 235delC was the most common heterozygous mutation (18 cases) and the mutation rate was 2.02%. GJB2 299A-T heterozygous mutation was detected in 7 cases with a mutation rate of 0.78%. IVS7-2A to G heterozygous mutation was detected in 9 cases with a mutation rate of 1.02%. There were 2 cases carrying GJB3 heterozygous mutation and 2 cases of mitochondrial 12S rRNA heterozygous mutation, with a mutation rate of 0.22%. IVS7-2A>G with GJB3 538C>T double heterozygous mutation was detected in 1 case, and IVS7-2A>G with GJB2 299A-T double heterozygous mutation was detected in another case, with the mutation rate of each being 0.11%. DNA sequencing has failed to find presence of mutations in the same gene in the husbands. The results of neonatal hearing follow-up were all normal.
  
  
  CONCLUSIONS
  Applications of the deaf genes screening in pregnant women may play prove to be valuable for the early detection for neonatal deafness.
authors.affiliation: Department of Reproductive Medicine Center, the Third Hospital of Peking University, Beijing 100191, P.R.China. pingliu7703@sina.com.
authors.forename: Minjie
authors.initials: M
authors.lastname: Shao
authors.forename: Ping
authors.initials: P
authors.lastname: Liu
authors.forename: Nan
authors.initials: N
authors.lastname: Zhao
authors.forename: Su
authors.initials: S
authors.lastname: Zhong
authors.forename: Yangyu
authors.initials: Y
authors.lastname: Zhao
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wei
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000175:diagnosis / Q000196:embryology / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000235:genetics*; D011296:Prenatal Diagnosis; D012335:RNA, Ribosomal / Q000235:genetics; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000072259:Connexin 26; C068044:GJB3 protein, human