title: Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
abstract: OBJECTIVE
  To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.
  
  
  METHODS
  A comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools. A total of 91 buccal cell samples of non-syndromic hearing loss and 91 normal hearing children were taken. Polymerase chain reaction was used to amplify the coding region of GJB2 gene. The PCR product of GJB2 coding region was preceded with screening for mutations using denaturing high performance liquid chromatography (dHPLC) and mutations detected were confirmed by DNA sequencing.
  
  
  RESULTS
  Twelve sequence variations including mutations and polymorphisms were found in 32 patients and 37 control subjects. The variations were G4D, V27I, E114G, T123N, V37I and R127H in both groups, W24X, R32H, 257_259 del CGC and M34L in patients only and I203T and V153I in control subjects only. There were no association between homozygous (P=0.368) or heterozygous (P=0.164) GJB2 gene and non-syndromic hearing loss.
  
  
  CONCLUSIONS
  The types of GJB2 gene mutation were different and vary in Malay non-syndromic hearing loss as compared to the other races. Furthermore, the mutation did not associate with hearing loss in the population. Other related genes are believed to be involved and need to be sought in this group of patients.
authors.affiliation: Human Genome Center, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.
authors.forename: Siti Aishah
authors.initials: SA
authors.lastname: Zainal
authors.forename: Mohd Khairi
authors.initials: MK
authors.lastname: Md Daud
authors.forename: Normastura
authors.initials: N
authors.lastname: Abd Rahman
authors.forename: Zafarina
authors.initials: Z
authors.lastname: Zainuddin
authors.forename: Zilfalil
authors.initials: Z
authors.lastname: Alwi
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005838:Genotype; D034381:Hearing Loss / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008296:Malaysia / Q000453:epidemiology; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015995:Prevalence
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26