A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
- Unite de Recherchess sur les Handicaps Genetiques de I'Enfant, Paris (France)
- Clinique Medicale Infantile, Poiters (France)
- Consultation d'Ophtalmologie, Paris (France); and others
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, the authors 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 ([cflx Z] = 4.13 at [cflx [theta]] = 0). Among them, 8 families originated from a small area of the Poitou-Charentes region ([cflx Z] = 3.78 at [cflx [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). 21 refs., 3 figs., 2 tabs.
- OSTI ID:
- 6443262
- Journal Information:
- Genomics; (United States), Vol. 14:4; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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