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| Year : 1995 | Volume
: 1
| Issue : 2 | Page : 93-103 |
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Localisation Of The Usher Syndrome Type I Gene In The French Acadian Population Of Louisiana To Chromosome 11p14-p15.1 By Linkage and Haplotype Analysis.
Radha Ayyagari, Richard J H Smith, Mihael Polymeropoulos, Stephen P Daiger, Mary Z Pelias, Laura Wozencraft, Muriel Kaiser-Kupfer, Fielding J Hejtmancik
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Correspondence Address:
Radha Ayyagari
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The Usher syndromes (USH) are autosomal recessive diseases characterised by congenital sensorineural hearing loss and progressive pigmentary retinopathy with or without vestibular dysfunction. At least three distinct loci causing type 1 Usher syndrome (USH1) have been reported, with the USHl locus found in the French-Acadian families of Louisiana (USHlC) mapping to chromosome 11p. In this study 16 microsatellite markers were used to refine the position of the USH1 locus in the French-Acadian population of Louisiana. Two-point linkage analysis showed no recombination between US1C and D11S419 (Zmax = 2.95), D11S902 (Zmax = 6.44), D11S921 (Zmax = 3.31), and D11S899 (Zmax = 5,46). A map of chromosome 11p14-15.1 based on microsatellite markers was developed for use in mapping USH1C. Multipoint linkage analysis gave Z = 6.5 at D11S899 with a one-lod confidence interval covering 5 cM interval. The closest flanking markers showing obligate recombinants are D11S861 and D11S928, which localises USH1C to a 9 cM interval. However, examination of the marker haplotypes in individuals affected by USH1C is consistent with the suggestion that the high icnidence of USH1 in this population is the result of a founder effect and places the USH1C locus in the 5cM interval bounded by D11S861 and D11S899. |
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