title: Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.
abstract: OBJECTIVE
  Mutations in the GJB2 gene are a major cause of hereditary hearing loss. However, only a few studies have investigated carrier frequencies of GJB2 mutations in the general population. The aim of this study was to estimate the carrier frequencies of three GJB2 mutations, including 235delC, V37I, and G45E, in the general Korean population.
  
  
  METHODS
  A standard questionnaire of self-reported hearing loss was used to identify and recruit subjects. Screening for three mutations was performed using an allele-specific polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism, and direct DNA sequencing.
  
  
  METHODS
  A total of 1256 unrelated healthy individuals were analysed in the present study.
  
  
  RESULTS
  Of the 1256 individuals, 24 had GJB2 mutations; 11 were found to be heterozygous for 235delC, 11 were heterozygous and one was homozygous for V37I, and one was heterozygous for G45E. One individual had a compound heterozygous mutation of 235delC/V37I. The allele frequencies of 235delC, V37I, and G45E mutations were 0.44%, 0.52%, and 0.04%, respectively. The carrier frequency of either the 235delC or V37I mutation was estimated to be 0.88% with 95% binomial CI, 0.44-1.56.
  
  
  CONCLUSIONS
  These results will facilitate diagnosis of, and genetic counseling for, hearing loss in Koreans.
authors.affiliation: Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.
authors.forename: Shin Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Bom Yi
authors.initials: BY
authors.lastname: Lee
authors.forename: Ji Hyae
authors.initials: JH
authors.lastname: Lim
authors.forename: Hyun Mee
authors.initials: HM
authors.lastname: Ryu
authors.forename: Jae Hyug
authors.initials: JH
authors.lastname: Yang
authors.forename: Jin Hoon
authors.initials: JH
authors.lastname: Chung
authors.forename: Ho Won
authors.initials: HW
authors.lastname: Han
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Park
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D034381:Hearing Loss / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D056910:Republic of Korea / Q000453:epidemiology; D011795:Surveys and Questionnaires
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26