title: [Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns].
abstract: OBJECTIVE
  To evaluate the efficacy of combined newborn hearing screening and deafness-related mutation screening.
  
  
  METHODS
  Eleven thousand and forty-six newborn babies were screened with otoacoustic emission, automatic auditory brainstem response and genetic testing using a standard protocol. Common mutations of three deafness-related genes have included GJB2 (c.235delC, c.299-300delAT), mtDNA 12srRNA (c.1494C>T, c.1555A>G) and SLC26A4 (c.2168A>G, c.IVS7-2A>G).
  
  
  RESULTS
  The detection rate for hearing loss in the first-step screening was 0.81% (90/11,046). 513 individuals were found to carry one or two mutant alleles, which gave a carrier rate of 4.64% (513/11,046). Five hundred and eighty-four newborns were positive for hearing screening and genetic screening. Among these, 19 have failed both tests, 71 have failed hearing screening, and 494 have failed genetic screening. The combined hearing and genetic screening has given a positive rate of 5.29%.
  
  
  CONCLUSIONS
  Neither hearing screening nor genetic screening is sufficient to identify individuals susceptible to auditory disorders. Combined used of these methods can improve the rate of detection.
authors.affiliation: Central Laboratory, Maternal and Child Health Hospital of Dongchangfu District, Liaocheng, Shangdong 252000, P.R. China. zhaoqing0120@126.com.
authors.forename: Xuejing
authors.initials: X
authors.lastname: Sun
authors.forename: Zuoming
authors.initials: Z
authors.lastname: Xi
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Baoyan
authors.initials: B
authors.lastname: Liu
authors.forename: Xinli
authors.initials: X
authors.lastname: Xing
authors.forename: Xin
authors.initials: X
authors.lastname: Huang
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhao
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D003638:Deafness / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006309:Hearing / Q000235:genetics*; D006320:Hearing Tests; D006801:Humans; D007231:Infant, Newborn; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D016133:Polymerase Chain Reaction; D012335:RNA, Ribosomal / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26