Document Detail


Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.
MedLine Citation:
PMID:  1478677     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.
Authors:
W J Kimberling; C G Möller; S Davenport; I A Priluck; P H Beighton; J Greenberg; W Reardon; M D Weston; J B Kenyon; J A Grunkemeyer
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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:  988-94     Citation Subset:  IM    
Affiliation:
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 11*
Female
Hearing Disorders / genetics*
Humans
Linkage (Genetics)*
Lod Score
Male
Molecular Sequence Data
Oligonucleotides
Pedigree
Retinitis Pigmentosa / genetics*
Syndrome
Grant Support
ID/Acronym/Agency:
R01-DC00677/DC/NIDCD NIH HHS
Chemical
Reg. No./Substance:
0/Oligonucleotides

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


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