title: [Genetic counseling and instruction of marriage for deaf young people: study of 115 cases].
abstract: OBJECTIVE
  To invesigate the molecular pathogenesis of deafness among the youth by means of genetic testing so as to provide pre-marriage genetic counseling and instruction for the deaf youth.
  
  
  METHODS
  217 deaf young people, 126 males and 91 females, aged 18.9 (16 - 26), from Yunnan and Guizhou provinces, underwent history taking, auditory testing, and collection of peripheral blood samples. Genomic DNA and mitochondrial DNA were extracted to undergo sequence analysis of the entire gene GJB2, common point mutation of SLC26A4 gene, and mutation of mtDNA A1555G. Genetic prediction and marriage instruction were provided to each subject based on these results.
  
  
  RESULTS
  Twenty-three of the 117 persons (10.5%), 13 males and 10 females, were mtDNA A1555G mutation carriers and they were instructed that they, their maternal relatives, and the offspring of the female carriers, should they be born, should strictly avoid the administration of amino glycoside antibiotics. Twenty eight of the 115 persons (12.9%), were confirmed to carry homozygous or compound GJB2 mutations, 5 individuals (2.3%) carried heterozygous GJB2 mutation, 19 (8.8%) carried homozygous or compound SLC26A4 mutations, and one (0.5%) carried heterozygous SLC26A4 mutation. The suggestion for them was to avoid getting married with deaf partners caused by the same deaf gene or with individuals carrying mutations in the same deaf gene. Meanwhile, suggestions such as avoiding aggressive exercises and head injury were provided to the deaf young people with SLC26A4 mutations.
  
  
  CONCLUSIONS
  Genetic testing can provide more accurate and useful genetic counseling and instruction to deaf young people for their partner selection and eugenics.
authors: Department of Otolaryngology-Head and Neck Surgery, General Hospital of Chinese People's Liberation Army, Beijing 100853, China.
authors: Bing
authors: B
authors: Han
authors: Pu
authors: P
authors: Dai
authors: Guo-Jian
authors: GJ
authors: Wang
authors: Yong-Yi
authors: YY
authors: Yuan
authors: Qi
authors: Q
authors: Li
authors: Xin
authors: X
authors: Zhang
authors: Dong-Yang
authors: DY
authors: Kang
authors: Dong-Yi
authors: DY
authors: Han
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D011291:Premarital Examinations; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26