1998 Fiscal Year Final Research Report Summary
Gene mapping for a deafness gene
| Project/Area Number |
09470372
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | OKAYAMA UNIVERSITY |
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Principal Investigator |
MASUDA Yu Medical School, OKAYAMA UNIVERSITY Professor, 医学部, 教授 (90033414)
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| Co-Investigator(Kenkyū-buntansha) |
FUKUSHIMA Kunihiro Medical School, OKAYAMA UNIVERSITY Hospital, Assistant, 医学部附属病院, 助手 (50284112)
NISHIZAKI Kazunori Medical School, OKAYAMA UNIVERSITY Associate Professor, 医学部, 助教授 (90180603)
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| Project Period (FY) |
1997 – 1998
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| Keywords | hereditary deafness / gene mapping / autosomal dominant / autosomal recessive / non-syndromic deafness / chromosome 2 / sodium channel / Homozygosity mapping |
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| Research Abstract |
Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most prevalent type of hearing impairment among neonates and children However, The extreme heterogeneity of deafness gene makes attempts to study ARNSHL as an insurmountable challenge. We applied the strategy of Homozygosity mapping to ARNSHL.To provide a high degree of assurance that the hearing loss was the result of homozygosity by descent, only consanguineous unions with 2 or more affected progeny were studied ; linkage analysis was performed on those families with 3 or more deaf progeny. Here, we reported the power and a possible utility of homozygosity mapping in the study of deafness gene.
We also reported that the sixteenth gene to cause autosomal dominant non-syndromic hearing loss (ADNSHL), DFNA16, maps to chromosome 2q23-24.3. DFNA16 is unique in that it is the only form of ADNSHL in which the phenotype includes rapidly progressing and fluctuating hearing loss that responds to corticosteroid therapy. This observation suggests that it may be possible to stabilize hearing through medical intervention once the biophysiology of DFNA1 6 deafness is clarified. Especially intriguing is the localization of several voltage-gated sodium channel genes to the DFNA16 interval. These cationic channels are excellent possibilities as positional and functional DFNA16 candidate genes.
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[Publications] Tomek MS,Brown MR,Mani SR,Ramesh A,Srisailapathy CRS,Coucke P,Zbar RIS,Bell AM,McGuit WT,Fukushima K,Wilems PJ,Van Camp G,Smith RJH: "Localization of a gene for otosclerosis to chromosome 15q25-q26" Hum Molec Genet. 7 (2). 285-290 (1998)
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