Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss
| Autor: | Zafarina Zainuddin, Normastura Abd Rahman, Zilfalil Alwi, Siti Aishah Zainal, Mohd Khairi Md Daud |
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| Rok vydání: | 2012 |
| Předmět: |
Genotype
Hearing loss Population DNA Mutational Analysis medicine.disease_cause Polymerase Chain Reaction Connexins law.invention Denaturing high performance liquid chromatography law Polymorphism (computer science) otorhinolaryngologic diseases medicine Prevalence Humans education Hearing Loss Gene Polymerase chain reaction Genetics Mutation education.field_of_study Polymorphism Genetic business.industry Malaysia General Medicine Connexin 26 Cross-Sectional Studies Otorhinolaryngology Pediatrics Perinatology and Child Health medicine.symptom business |
| Zdroj: | International journal of pediatric otorhinolaryngology. 76(8) |
| ISSN: | 1872-8464 |
| Popis: | Objectives 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. |
| Databáze: | OpenAIRE |
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