title: Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
abstract: Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locus on chromosome 16 causing this disorder, and provided evidence that Bardet-Biedl syndrome is heterogeneous. In this study, we identify another Bardet-Biedl syndrome locus on chromosome 3 and confirm the non-allelic heterogeneity of this disorder in Bedouin populations. In addition, we demonstrate the feasibility of using pooled DNA samples from members of large kindreds as an efficient approach to homozygosity mapping.
authors.affiliation: Department of Pediatrics, University of Iowa, Iowa City 52242-1083.
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: A
authors.initials: A
authors.lastname: Kwitek-Black
authors.forename: T
authors.initials: T
authors.lastname: Rokhlina
authors.forename: D
authors.initials: D
authors.lastname: Nishimura
authors.forename: G M
authors.initials: GM
authors.lastname: Duyk
authors.forename: K
authors.initials: K
authors.lastname: Elbedour
authors.forename: S L
authors.initials: SL
authors.lastname: Sunden
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004247:DNA / Q000235:genetics; D005069:Evaluation Studies as Topic; D005260:Female; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D007223:Infant; D007849:Laurence-Moon Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D004247:DNA