Document Detail

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.
MedLine Citation:
PMID:  1478676     Owner:  NLM     Status:  MEDLINE    
Usher syndrome (US) is an autosomal recessive disease characterized by congenital hearing impairment and retinitis pigmentosa. It is the most frequent cause of deaf-blindness in adults and accounts for 3 to 6% of deaf children. Here, we report the genetic mapping of a gene for US type I (USH1A), the most severe form of the disease, to the long arm of chromosome 14, by linkage to probe MLJ14 at the D14S13 locus in 10 families of Western France ancestry (Z = 4.13 at theta = 0). Among them, 8 families originated from a small area of the Poitou-Charentes region (Z = 3.78 at theta = 0), suggesting that a founder effect could be involved. However, since not all US type I families were found to be linked to this locus, the present study provides evidence for genetic heterogeneity of this condition (heterogeneity versus homogeneity test HOMOG, P < 0.05; heterogeneity versus no linkage, P < 0.01).
J Kaplan; S Gerber; D Bonneau; J M Rozet; O Delrieu; M L Briard; H Dollfus; I Ghazi; J L Dufier; J Frézal
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Publication Detail:
Type:  Journal Article    
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:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  979-87     Citation Subset:  IM    
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U12 Hôpital des Enfants Malades, Paris, France.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 14*
Hearing Disorders / congenital,  genetics*
Linkage (Genetics)
Retinitis Pigmentosa / genetics*

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