Document Detail


Localization of two genes for Usher syndrome type I to chromosome 11.
MedLine Citation:
PMID:  1478678     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The Usher syndromes (USH) are autosomal recessive diseases characterized by congenital sensorineural hearing loss and progressive pigmentary retinopathy. While relatively rare in the general population, collectively they account for approximately 6% of the congenitally deaf population. Usher syndrome type II (USH2) has been mapped to chromosome 1q (W. J. Kimberling, M. D. Weston, C. Möller, et al., 1990, Genomics 7: 245-249; R. A. Lewis, B. Otterud, D. Stauffer, et al., 1990, Genomics 7: 250-256), and one form of Usher syndrome type I (USH1) has been mapped to chromosome 14q (J. Kaplan, S. Gerber, D. Bonneau, J. Rozet, M. Briord, J. Dufier, A. Munnich, and J. Frezal, 1990. Cytogenet. Cell Genet. 58: 1988). These loci have been excluded as regions of USH genes in our data set, which is composed of 8 French-Acadian USH1 families and 11 British USH1 families. Both of these sets of families show linkage to loci on chromosome 11. Linkage analysis demonstrates locus heterogeneity between these sets of families, with the French-Acadian families showing linkage to D11S419 (Z = 4.20, theta = 0) and the British families showing linkage to D11S527 (Z = 6.03, theta = 0). Genetic heterogeneity of the data set was confirmed using HOMOG and the M test (log likelihood ratio > 10(5)). These results confirm the presence of two distinct USH1 loci on chromosome 11.
Authors:
R J Smith; E C Lee; W J Kimberling; S P Daiger; M Z Pelias; B J Keats; M Jay; A Bird; W Reardon; M Guest
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  14     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1992 Dec 
Date Detail:
Created Date:  1993-02-10     Completed Date:  1993-02-10     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  995-1002     Citation Subset:  IM    
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City 52242.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 11*
Female
Hearing Disorders / congenital,  genetics*
Humans
Linkage (Genetics)
Lod Score
Male
Pedigree
Polymorphism, Genetic
Retinitis Pigmentosa / genetics*
Syndrome
Grant Support
ID/Acronym/Agency:
EY07142/EY/NEI NIH HHS; RR-05425/RR/NCRR NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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