Elsevier

Genomics

Volume 55, Issue 1, 1 January 1999, Pages 2-9
Genomics

Regular Article
Genetic Heterogeneity of Bardet–Biedl Syndrome in a Distinct Canadian Population: Evidence for a Fifth Locus

https://doi.org/10.1006/geno.1998.5626Get rights and content

Abstract

Bardet–Biedl syndrome (BBS) is a rare, autosomal recessive disease characterized by retinal dystrophy, renal structural abnormalities, obesity, dysmorphic extremities, and hypogenitalism in males. BBS is genetically heterogeneous with four known loci: BBS1 (11q), BBS2 (16q), BBS3 (3p), and BBS4 (15q). The prevalence of BBS in Newfoundland is approximately 10-fold greater than in Switzerland (1:160,000) and similar to the prevalence among the Bedouin of Kuwait (1:13,500). A population-based genetic survey was performed on 17 BBS families from the island portion of the province of Newfoundland, a comparatively isolated region of Canada. The families in the study had a total of 36 well-documented, affected individuals with 12 families having 2 or more affected individuals. Linkage at each of the four known loci was tested with two-point linkage and haplotype analysis. Three of the 17 kindreds showed linkage to 11q, 1 to 16q, and 1 to 3p. The latter is the first BBS3 family identified in a population of northern European descent. Six families remain undetermined because of poor pedigree structure or inconclusive haplotype analyses. Six families were excluded from all four known BBS loci, indicating that there is at least a fifth BBS locus (BBS5).

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    C. D. Clemente

    1

    To whom correspondence should be addressed at the Department of Biochemistry, Memorial University of Newfoundland, St. John's, Newfoundland, Canada A1B 3X9. Telephone: (709) 737-4468. Fax: (709) 737-2422. E-mail:[email protected].

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