title: The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.
abstract: BACKGROUND
  Given that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the general population.
  
  
  METHODS
  7,263 unrelated women of childbearing age with normal hearing and without family history of hearing loss were tested with allele-specific PCR-based universal array. Further genetic testing were provided to the spouses of the screened carriers. For those couples at risk, multiple choices were provided, including prenatal diagnosis.
  
  
  RESULTS
  Among the 7,263 normal hearing participants, 303 subjects carried pathogenic mutations included in the screening chip, which made the carrier rate 4.17%. Of the 303 screened carriers, 282 harbored heterozygous mutated genes associated with autosomal recessive hearing loss, and 95 spouses took further genetic tests. 8 out of the 9 couples harbored deafness-causing mutations in the same gene received prenatal diagnosis.
  
  
  CONCLUSIONS
  Given that nearly 90 to 95 percent of deaf and hard-of-hearing babies are born into hearing families, better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the female population of childbearing age may be of importance in carrier screening and genetic counseling.
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, China.
authors.forename: Aihua
authors.initials: A
authors.lastname: Yin
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Wu
authors.forename: Mingqin
authors.initials: M
authors.lastname: Mai
authors.forename: Hongke
authors.initials: H
authors.lastname: Ding
authors.forename: Jiexia
authors.initials: J
authors.lastname: Yang
authors.forename: Xiaozhuang
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D005820:Genetic Testing; D034381:Hearing Loss / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D012307:Risk Factors; D012737:Sex Factors
chemical_list: D017630:Connexins; D000072259:Connexin 26