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Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography

Published online by Cambridge University Press:  20 March 2008

Z Siti Aishah ,
M D Mohd Khairi ,
A R Normastura ,
Z Zafarina  and
B A Zilfalil
Z Siti Aishah
Affiliation:
Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia
M D Mohd Khairi*
Affiliation:
Department of Otorhinolaryngology, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia
A R Normastura
Affiliation:
Schools of Dental Sciences, Universiti Sains Malaysia, Kelantan, Malaysia
Z Zafarina
Affiliation:
Health Sciences, Universiti Sains Malaysia, Kelantan, Malaysia
B A Zilfalil
Affiliation:
Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia
*
Address for correspondence: Dr M D Mohd Khairi, Department of Otorhinolaryngology, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia. E-mail: khairi@kck.usm.my
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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.

Keywords

GJB2 Protein, HumanSensorineural Hearing LossCongenitalMalaysiaHuman Genetics

Information

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 122 , Issue 12 , December 2008 , pp. 1284 - 1288
Copyright
Copyright © JLO (1984) Limited 2008

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