title: Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
abstract: Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies. Three independent loci causing Bardet-Biedl syndrome have previously been reported. In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. The results further demonstrate the genetic heterogeneity of this disorder. In addition, the results demonstrate the efficiency of the DNA pooling approach for identifying recessive disease loci in highly inbred human populations.
authors.affiliation: Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: T
authors.initials: T
authors.lastname: Rokhlina
authors.forename: A E
authors.initials: AE
authors.lastname: Kwitek-Black
authors.forename: K
authors.initials: K
authors.lastname: Elbedour
authors.forename: D
authors.initials: D
authors.lastname: Nishimura
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics; D013577:Syndrome
chemical_list: D004247:DNA