Localization of a gene for otosclerosis to chromosome 15q25-q26
| Autor: | Matthew R. Brown, Wyman T. McGuirt, Sabitha R. Mani, Arabandi Ramesh, Michael S. Tomek, Guy Van Camp, Paul Coucke, Adam M. Bell, C. R. Srikumari Srisailapathy, Ross I. S. Zbar, Patrick Willems, Richard J.H. Smith, Kunihiro Fukushima |
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| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Předmět: |
Adult
Male Hearing loss Genetic Linkage Hearing Loss Conductive Biology Gene mapping Genetic linkage Genetics medicine Humans Molecular Biology Genetics (clinical) Genes Dominant Repetitive Sequences Nucleic Acid Chromosomes Human Pair 15 Chromosome Chromosome Mapping General Medicine medicine.disease Penetrance Pedigree White (mutation) Otosclerosis Haplotypes Microsatellite Female medicine.symptom |
| Zdroj: | Human molecular genetics |
| ISSN: | 0964-6906 |
| Popis: | Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi-generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease-causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene. |
| Databáze: | OpenAIRE |
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