Localization of a gene for otosclerosis to chromosome 15q25-q26

Michael S Tomek; Matthew R Brown; Sabitha R Mani; Arabandi Ramesh; C R Srikumari Srisailapathy; Paul Coucke; Ross I S Zbar; Adam M Bell; Wyman T Mcguirt; Kunihiro Fukushima; Patrick J Willems; Guy Van Camp; Richard J H Smith

doi:10.1093/hmg/7.2.285

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Localization of a gene for otosclerosis to chromosome 15q25-q26

Journal article

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Localization of a gene for otosclerosis to chromosome 15q25-q26

Michael S Tomek, Matthew R Brown, Sabitha R Mani, Arabandi Ramesh, C R Srikumari Srisailapathy, Paul Coucke, Ross I S Zbar, Adam M Bell, Wyman T Mcguirt, Kunihiro Fukushima, …

Human molecular genetics, Vol.7(2), pp.285-290

02/1998

DOI: 10.1093/hmg/7.2.285

PMID: 9425236

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Abstract

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.

Humans

Male

Chromosome Mapping

Chromosomes, Human, Pair 15 - genetics

Haplotypes - genetics

Genes, Dominant

Pedigree

Hearing Loss, Conductive - genetics

Repetitive Sequences, Nucleic Acid

Adult

Female

Otosclerosis - genetics

Genetic Linkage

Details

Title: Subtitle: Localization of a gene for otosclerosis to chromosome 15q25-q26
Creators: Michael S Tomek - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
Matthew R Brown
Sabitha R Mani
Arabandi Ramesh
C R Srikumari Srisailapathy
Paul Coucke
Ross I S Zbar
Adam M Bell
Wyman T Mcguirt
Kunihiro Fukushima
Patrick J Willems
Guy Van Camp
Richard J H Smith
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.7(2), pp.285-290
DOI: 10.1093/hmg/7.2.285
PMID: 9425236
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Language: English
Date published: 02/1998
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006425002771

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