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- Title
Absence of GJB6 Coding Region Deletion in Non-Syndromic Hearing Loss in Malay Population.
- Authors
Zainal, Siti Aishah; Daud, Mohd Khairi Md; Rahman, Normastura Abd; Zainuddin, Zafarina; Zilfalil, Bin Alwi
- Abstract
Objective: To determine the presence of deletion in exon 6 of the GJB6 gene in Malays with non-syndromic hearing loss. Materials and Methods: Ninety one (91) Malay patients with non-syndromic hearing loss (NSHL) were recruited. All the patients were confirmed to have bilateral severe to profound hearing loss based on Pure Tone Audiometry (PTA) examination. The patients were asked to gargle and buccal swab samples were then collected. Genomic DNA was extracted using Gene All Blood SV Mini kit and deletion analysis of exon 6 of GJB6 gene was carried out using primers. GJB6 gene was co-amplified with β-globin gene as an internal control. Results: Multiplex amplification was successfully performed on the coding region of GJB6 gene. The size of amplicon amplified with Cx30-1 and Cx30-8 primers was 872 bp while for β-globin gene, the size of amplicon was 240 bp. All non-syndromic hearing loss patients were identified to have no deletion in GJB6 coding region. Conclusion: The absence of GJB6 coding region deletion in patients indicated that the deletion may not play a role in NSHL Malay patients and may be restricted to certain populations.
- Subjects
MALAYSIA; GENES; HEARING disorders; GENETICS
- Publication
International Medical Journal, 2016, Vol 23, Issue 5, p504
- ISSN
1341-2051
- Publication type
Article