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A Gene for Autosomal Dominant Non-Syndromic Deafness In A Small Family In Malaysia Maps To Chromosome 2

Farah Wahida I., and Aminuddin B.S., and Ruszymah B.H.I., (2005) A Gene for Autosomal Dominant Non-Syndromic Deafness In A Small Family In Malaysia Maps To Chromosome 2. Malaysian Journal of Biochemistry and Molecular Biology, 11 (1). pp. 24-30. ISSN ISSN 1511-2616

Full text not available from this repository.

Official URL: http://ejum.fsktm.um.edu.my/ArticleInformation.aspx?ArticleID=619

Affiliations

Hospital Universiti Kebangsaan Malaysia. Tissue Engineering and Human Genetics Laboratory
Universiti Kebangsaan Malaysia. Faculty of Medicine. Dept. of Physiology
Ampang Puteri Specialist Hospital. Ear, Nose & Throat Consultant Clinic

Abstract

Hearing loss is one of the most frequent sensory disorders in humans. Haplotype reconstruction is one of the methods used in linkage studies, which can be applied to search for the deaf genes in small families. New mutations will arise on a specific chromosomal haplotype, making it easier to track down the genes involved. Thus, haplotype-based methods can offer a powerful approach to disease gene mapping. We investigated a small family of five, consisting of two deaf parents and three deaf male children. As this family is too small to generate a significant lod score, a linkage study in this family was done through haplotyping. Forty one candidate loci for autosomal dominant deafness were tested for linkage in this family. We identified the locus responsible for deafness by using microsatellite markers (10 centiMorgans), then construct a haplotype data for each family member by using the genotypes data obtained. Through haplotyping, we found that the hearing loss is inherited maternally via autosomal dominant non-syndromic deafness. Also, through haplotyping, we found an interesting locus on chromosome 2 (2q32.5- q35) of 27.4 centiMorgans which might be the causative locus for deafness in this family. There are 23 candidate genes residing in the locus and the most probable is MYO1B gene. We have successfully mapped the locus for the autosomal dominant nonsyndromic deafness in a small Malaysian family to 2q32.5-q35.

Item Type:Journal
Additional Information:This study was made possible by grant from the Ministry of Science, Technology and Environment of Malaysia (IRPA 06-02-02-0120), Medical Faculty Universiti Kebangsaan Malaysia and Hospital Universiti Kebangsaan Malaysia. The authors thank the Kuala Lumpur Society of the Deaf (KLSD) for their support during this study.
Keywords:Autosomal Dominant, Candidate Gene, Deafness, Haplotype, Locus, MYO1B
Subjects:Q Science, Computer Science
R Medicine, Dentistry, Pharmacy, Nursing
ID Code:2278

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