title: [The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].
abstract: OBJECTIVE
  To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing.
  
  
  METHODS
  We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening (GJB2 c. 235delC, GJB2 c. 299_300delAT, GJB2 c. 176191del16, GJB2 c. 35delG) in Beijing Tongren hospital, and the mutation were classified to pathogenic mutation,undefined variant and polymorphism.
  
  
  RESULTS
  Four hundred (43.72%, 400/915) newborn were detected to carry at least one mutation allele in GJB2. 3 (0.33%, 3/915) newborn had pathogenic mutations (c. 94C>T, c. 380G>T, c. 344T>G); 62 (6.76%, 62/915) newborn carried 14 undefined variant, 36 newborn had c. 109G>A (58.06%, 36/62),13 newborn had c. 368C>A (20.97%,13/62), six (c. 268C>G, c. 282C>T, c. 294G>C, 456C>T, c. 501G>A, c. 587T>C) are novel; 335 (36.61%, 335/915) newborn were polymorphism.
  
  
  CONCLUSIONS
  The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing. It is noteworthy that c. 109G>A, c. 368C>A occupy a high proportion.
authors.lastname: Cui Qingjia
authors.lastname: Huang Lihui
authors.lastname: Ruan Yu
authors.lastname: Du Yanshun
authors.lastname: Zhao Liping
authors.lastname: Yang Jun
authors.lastname: Zhang Wei
mesh_terms: D000483:Alleles; D000068476:Beijing; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D011110:Polymorphism, Genetic
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26