1.Linkage and association studies in a Malaysian family with autosomal recessive non-syndromic hearing loss.
Wahida I Farah ; B S Aminuddin ; B H I Ruszymah
The Malaysian journal of pathology 2006;28(1):23-33
Hearing loss is a common sensory deficit in humans. The hearing loss may be conductive, sensorineural, or mixed, syndromic or nonsyndromic, prelingual or postlingual. Due to the complexity of the hearing mechanism, it is not surprising that several hundred genes might be involved in causing hereditary hearing loss. There are at least 82 chromosomal loci that have been identified so far which are associated with the most common type of deafness--non-syndromic deafness. However, there are still many more which remained to be discovered. Here, we report the mapping of a locus for autosomal recessive, non-syndromic deafness in a family in Malaysia. The investigated family (AC) consists of three generations--parents who are deceased, nine affected and seven unaffected children and grandchildren. The deafness was deduced to be inherited in an autosomal recessive manner with 70% penetrance. Recombination frequencies were assumed to be equal for both males and females. Using two-point lod score analysis (MLINK), a maximum lod score of 2.48 at 0% recombinant (Z = 2.48, theta = 0%) was obtained for the interval D14S63-D14S74. The haplotype analysis defined a 14.38 centiMorgan critical region around marker D14S258 on chromosome 14q23.2-q24.3. There are 16 candidate genes identified with positive expression in human cochlear and each has great potential of being the deaf gene responsible in causing non-syndromic hereditary hearing loss in this particular family. Hopefully, by understanding the role of genetics in deafness, early interventional strategies can be undertaken to improve the life of the deaf community.
Deafness
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Family
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Relationship by association
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MALAYSIAN
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Linkage (Genetics)
2.Gene expression characteristic in human auricular cartilage tissue engineering.
Farah Wahida I ; Aminuddin BS ; Munirah S ; Chua KH ; Fuzina NH ; Isa MR ; Saim L ; Ruszymah BH
The Medical Journal of Malaysia 2004;59 Suppl B():190-191
This study was to assess collagen type II and collagen type I gene expression in tissue-engineered human auricular: cartilage formed via tissue engineering technique. Large-scale culture expansions were transformed into 3D in vitro construct and were implanted subcutaneously on the dorsal of athymic mice. After 8 weeks, explanted construct was processed in the same manner of native cartilage to facilitate cells for gene expression analysis. Isolated cells from in vivo construct demonstrated expression of type II collagen gene comparable to native cartilage. This study verified that tissue-engineered auricular cartilage expressed cartilage specific gene, collagen type II after in vivo maturation.
Actins/genetics
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Cartilage/transplantation
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Cell Aging/physiology
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Cells, Cultured
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Chondrocytes/*cytology
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Collagen Type I/*genetics
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Collagen Type II/*genetics
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Ear, External
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Fibroblasts/cytology
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Gene Expression/physiology
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Mice, Nude
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*Phenotype
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Reverse Transcriptase Polymerase Chain Reaction
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Tissue Engineering/*methods
3.Gene expression characteristic in human auricular cartilage tissue engineering.
I Farah Wahida ; B S Aminuddin ; S Munirah ; K H Chua ; N H Fuzina ; M R Isa ; L Saim ; B H I Ruszymah
The Medical journal of Malaysia 2004;59 Suppl F():190-1
This study was to assess collagen type II and collagen type I gene expression in tissue-engineered human auricular: cartilage formed via tissue engineering technique. Large-scale culture expansions were transformed into 3D in vitro construct and were implanted subcutaneously on the dorsal of athymic mice. After 8 weeks, explanted construct was processed in the same manner of native cartilage to facilitate cells for gene expression analysis. Isolated cells from in vivo construct demonstrated expression of type II collagen gene comparable to native cartilage. This study verified that tissue-engineered auricular cartilage expressed cartilage specific gene, collagen type II after in vivo maturation.
Gene Expression
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Collagen
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Cartilage
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Tissue Engineering
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Auricular cartilage