Refining the DFNB17 interval in consanguineous Indian families

Yingshi Guo; Valentina Pilipenko; Lynne Lim; Hongwei Dou; Liane Johnson; C.R Srisailapathy; Arabandi Ramesh; Daniel Choo; Richard Smith; John Greinwald

doi:10.1023/B:MOLE.0000031385.64105.61

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Refining the DFNB17 interval in consanguineous Indian families

Journal article

Peer reviewed

Refining the DFNB17 interval in consanguineous Indian families

Yingshi Guo, Valentina Pilipenko, Lynne Lim, Hongwei Dou, Liane Johnson, C.R Srisailapathy, Arabandi Ramesh, Daniel Choo, Richard Smith and John Greinwald

Molecular biology reports, Vol.31(2), pp.97-105

06/2004

DOI: 10.1023/B:MOLE.0000031385.64105.61

PMID: 15293785

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Abstract

We previously mapped the DFNB17 locus to a 3-4 cM interval on human chromosome 7q31 in a large consanguineous Indian family with congenital profound sensorineural hearing loss. To further refine this interval, 30 new highly polymorphic markers and 8 SNPs were analyzed against the pedigree. Re-analysis in the original DFNB17 family and additional data from a second unrelated consanguineous family with congenital deafness found to map to the interval, limited the area of shared homozygosity-by-descent (HBD) to approximately 4 megabase (Mb) between markers D7S2453 and D7S525. Nineteen known genes and over 20 other cDNAs have been identified in the refined DFNB17 interval, including the SLC26A4 gene. We have analyzed 4 other cochlear-expressed genes that map to the DFNB17 interval as candidate genes. Analysis of coding and splice site regions of these cochlear expressed genes did not reveal any disease causing mutations. Further study of other candidate genes is currently underway.

Life Sciences

Deafness

genetic

nonsyndromic

DFNB17

Animal Biochemistry

Indian

Animal Anatomy / Morphology / Histology

Details

Title: Subtitle: Refining the DFNB17 interval in consanguineous Indian families
Creators: Yingshi Guo - Center for Hearing and Deafness Research, Department of Otolaryngology Cincinnati, Children's Hospital Cincinnati OH USA
Valentina Pilipenko - Center for Hearing and Deafness Research, Department of Otolaryngology Cincinnati, Children's Hospital Cincinnati OH USA
Lynne Lim - Center for Hearing and Deafness Research, Department of Otolaryngology Cincinnati, Children's Hospital Cincinnati OH USA
Hongwei Dou - Center for Hearing and Deafness Research, Department of Otolaryngology Cincinnati, Children's Hospital Cincinnati OH USA
Liane Johnson - Center for Hearing and Deafness Research, Department of Otolaryngology Cincinnati, Children's Hospital Cincinnati OH USA
C.R Srisailapathy - Department of Genetics University of Madras Madras India
Arabandi Ramesh - Department of Genetics University of Madras Madras India
Daniel Choo - Center for Hearing and Deafness Research, Department of Otolaryngology Cincinnati, Children's Hospital Cincinnati OH USA
Richard Smith
John Greinwald - Department of Genetics University of Madras Madras India
Resource Type: Journal article
Publication Details: Molecular biology reports, Vol.31(2), pp.97-105
DOI: 10.1023/B:MOLE.0000031385.64105.61
PMID: 15293785
NLM abbreviation: Mol Biol Rep
ISSN: 0301-4851
eISSN: 1573-4978
Publisher: Kluwer Academic Publishers; Dordrecht
Language: English
Date published: 06/2004
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: 9984006430002771

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