title: Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography.
abstract: OBJECTIVE
  To determine the frequency and type of gap junction protein beta-2 gene mutations in Malay patients with autosomal recessive, non-syndromic hearing loss.
  
  
  METHODS
  A total of 33 Malay patients with autosomal recessive, non-syndromic hearing loss were screened for mutations in the Cx26 coding region. Deoxyribonucleic acid was extracted from buccal swab samples and subjected to polymerase chain reaction. Slow-reannealing was performed, followed by screening using denaturing high performance liquid chromatography.
  
  
  RESULTS
  Eight of the samples (24.2 per cent) showed heterozygous peaks, and further sequencing of these samples revealed four patients (50.0 per cent) with the W24X mutation, two (25.0 per cent) with the V37I mutation and another two (25.0 per cent) with the G4D mutation.
  
  
  CONCLUSIONS
  Analysis of buccal swab samples by denaturing high performance liquid chromatography is noninvasive and suitable for rapid and reliable screening of gap junction protein beta-2 gene mutations in patients with autosomal recessive, non-syndromic hearing loss. Malay patients with autosomal recessive, non-syndromic hearing loss have different kinds of gap junction protein beta-2 gene mutations which are rarely found in other populations.
authors: Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia.
authors: Z Siti
authors: ZS
authors: Aishah
authors: M D Mohd
authors: MD
authors: Khairi
authors: A R
authors: AR
authors: Normastura
authors: Z
authors: Z
authors: Zafarina
authors: B A
authors: BA
authors: Zilfalil
mesh_terms: D002851:Chromatography, High Pressure Liquid; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008296:Malaysia / Q000208:ethnology; D008297:Male; D009061:Mouth Mucosa; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26