title: Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis.
abstract: OBJECTIVE
  To establish a high-throughput, low-cost method for neonatal genetic testing of the p.V37I of GJB2 gene, which is highly prevalent in East Asians and strongly associated with postnatal childhood hearing impairment.
  
  
  METHODS
  A total of 6460 newborn blood-spot DNA samples were screened by high-resolution melting analysis (HRMA).
  
  
  RESULTS
  The screening results were further verified by direct sequencing of 28 homozygous, 545 heterozygous and 200 wild-type samples.
  
  
  CONCLUSIONS
  Our study indicated that the HRMA-based bloodspot screening method was of very high sensitivity and specificity and was suitable for large-scale screening of the p.V37I variants in newborns.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Lian-hua
authors.initials: LH
authors.lastname: Sun
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: yangtfxl@sina.com.
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: wuhao622@sina.cn.
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000097:blood*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA
keywords: GJB2 gene; High-resolution melting analysis; Screening; p.V37I