Document Detail


Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.
MedLine Citation:
PMID:  1978628     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Usher syndrome is an autosomal recessive disease associating congenital sensorineural deafness and retinitis pigmentosa. Two clinical forms have been recognized, namely a) congenital and severe (type I) and b) later and moderate (type II). A linkage of the D1S81 probe (THH 33) with the gene for type II has been recently demonstrated by Kimberling et al. 1990. Here, a panel of 29 individuals from 6 kindreds with Usher syndrome type I has been tested for possible allelism at the D1S81 locus. A negative lod-score was found with this probe and close linkage to this region could be excluded. These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.
Authors:
J Kaplan; G Guasconi; D Bonneau; J Melki; M L Briard; A Munnich; J L Dufier; J Frézal
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annales de génétique     Volume:  33     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1990  
Date Detail:
Created Date:  1990-12-05     Completed Date:  1990-12-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  105-8     Citation Subset:  IM    
Affiliation:
Unité de Recherche sur les Handicaps Génétiques de l'Enfant (INSERM U12), Hôpital Necker, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Blotting, Southern
Child
Chromosomes, Human, Pair 1*
DNA Probes / diagnostic use
Female
Genes, Recessive
Genetic Markers*
Hearing Loss, Bilateral / genetics*
Hearing Loss, Sensorineural / genetics*
Humans
Lod Score
Male
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length
Retinitis Pigmentosa / genetics*
Syndrome
Chemical
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers

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


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