The goal of the research proposed is to use a cytogenetic approach to discover new deafness genes. Many genes of the auditory system have been identified through linkage studies of families that carry deafness as a heritable trait. This process is limiting in that a large number of affected individuals need to be analyzed to gain significant data. By ascertaining deaf individuals that carry balanced translocations, it becomes possible to discover disrupted genes with the genetic material of a single person. In this proposal, I plan to study two cases where the individual is deaf and carries a balanced translocation. Using the vast number of resources available now due to the progress made by the Human Genome Project, the sequence disrupted by these translocations will be identified. This will be done by progressively narrowing the breakpoint with FISH experiments using BACs and PCR products known to hybridize in the region. Candidate genes will then be identified by comparing the disrupted sequence to those already deposited in GenBank, or by analyzing these sequences with predication programs and methods. Ultimately, a mouse mutant may be created to confirm the pathogenesis of the disrupted gene.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Predoctoral Individual National Research Service Award (F31)
Project #
1F31DC005712-01
Application #
6551789
Study Section
Communication Disorders Review Committee (CDRC)
Program Officer
Sklare, Dan
Project Start
2002-07-01
Project End
2005-03-31
Budget Start
2002-07-01
Budget End
2003-06-30
Support Year
1
Fiscal Year
2002
Total Cost
$28,810
Indirect Cost
Name
Brigham and Women's Hospital
Department
Type
DUNS #
071723621
City
Boston
State
MA
Country
United States
Zip Code
02115
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