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PMID: 1478677 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Genomics ·Vol. 14 ·No. 4 ·1992-12-00 ·Pages 988-94

Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA

Abstract

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.

Related Genes
MeSH Terms
Base Sequence Chromosome Mapping Chromosomes, Human, Pair 11 Female Genetic Linkage Hearing Disorders/genetics Humans Lod Score Male Molecular Sequence Data Oligonucleotides Pedigree Retinitis Pigmentosa/genetics Syndrome
Chemicals
Oligonucleotides
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Kimberling W J
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131.
Möller C G
Davenport S
Priluck I A
Beighton P H
Greenberg J
Reardon W
Weston M D
Kenyon J B
Grunkemeyer J A
Article Info
Journal
Genomics
Abbr.
Genomics
ISSN
0888-7543
Published
1992-12-00
Pages
988-94
Language
English
Region
United States
NLM ID
8800135
Subset
IM
Grants
NIDCD NIH HHS · R01-DC00677 · United States
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