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  1. Fulltext The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children
    Asma A, Ashwaq A, Norzana AG, Atmadini AM, Ruszymah BH, Saim L, et al.
    Med J Malaysia, 2011 Jun;66(2):124-8.
    PMID: 22106692 MyJurnal
    Recently, molecular testing for GJB2 mutations has become the standard of care for the diagnosis of patients with non syndromic hearing impairment of unknown cause. The aims of this study are to determine the association between GJB2 mutation and GJB6 and to report the variation of mutations in deaf students who have heterozygous GJB2. This retrospective study was conducted at Universiti Kebangsaan Malaysia Medical Center (UKMMC). Data was collected from previous files and records from Tissue Engineering and Human Genetic Research Group Laboratory. Approval from Ethical Committee was obtained prior to the study. A total of 138 students have been screened in previous studies in UKMMC for the presence of GJB2 mutations as a cause for hearing loss. Thirty four of the 138 subjects have GJB2 mutations; 2 showed homozygous mutations whereas another 32 were heterozygous for GJB2 gene mutation. Only 31 DNA samples of students presented with sensorineural hearing loss with heterozygous mutation in GJB2 gene were included in this study. The sequencing results obtained were analyzed. The degree of hearing loss of those students with association between GJB2 mutation and GJB6 mutation will be discussed. Five out of 31 subjects (16.2%) have mutations in their GJB6 gene, suggesting a digenic inheritance of GJB2/GJB6 mutation. In total, four novel mutations were identified; E137D (n=1), R32Q (n=1), E101K (n=1) and Y156H (n=1) and one mutation deletion; 366delT (n=1). All students with association GJB2 mutation and GJB6 showed severe to profound hearing loss in both ears. Interestingly this study not detected the large deletion of 342 kb in GJB6 gene suggesting that the mutation is very rare in this region compared to certain parts of the world.
    Matched MeSH terms: Hearing Loss, Sensorineural/ethnology
  2. Fulltext A Novel Approach for Classifying Native Chinese and Malay Speaking Persons According to Cortical Auditory Evoked Responses
    Ibrahim IA, Ting HN, Moghavvemi M
    J Int Adv Otol, 2019 Apr;15(1):87-93.
    PMID: 30924771 DOI: 10.5152/iao.2019.4553
    OBJECTIVES: This study uses a new approach for classifying the human ethnicity according to the auditory brain responses (electroencephalography [EEG] signals) with a high level of accuracy. Moreover, the study presents three different algorithms used to classify the human ethnicity using auditory brain responses. The algorithms were tested on Malays and Chinese as a case study.

    MATERIALS AND METHODS: The EEG signal was used as a brain response signal, which was evoked by two auditory stimuli (Tones and Consonant Vowels stimulus). The study was carried out on Malaysians (Malay and Chinese) with normal hearing and with hearing loss. A ranking process for the subjects' EEG data and the nonlinear features was used to obtain the maximum classification accuracy.

    RESULTS: The study formulated the classification of Normal Hearing Ethnicity Index and Sensorineural Hearing Loss Ethnicity Index. These indices classified the human ethnicity according to brain auditory responses by using numerical values of response signal features. Three classification algorithms were used to verify the human ethnicity. Support Vector Machine (SVM) classified the human ethnicity with an accuracy of 90% in the cases of normal hearing and sensorineural hearing loss (SNHL); the SVM classified with an accuracy of 84%.

    CONCLUSION: The classification indices categorized or separated the human ethnicity in both hearing cases of normal hearing and SNHL with high accuracy. The SVM classifier provided a good accuracy in the classification of the auditory brain responses. The proposed indices might constitute valuable tools for the classification of the brain responses according to the human ethnicity.

    Matched MeSH terms: Hearing Loss, Sensorineural/ethnology
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