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© 1994 Oxford University Press

OTHER

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Val C. Sheffield1,*, Rivka Carml2,3, Anne Kwltek-Black1, Tatiana Rokhlina1, Darryl Nishlmura1, Geoffrey M. Duyk4, Khalil Elbedour3, Sara L. Sunden1 and Edwin M. Stone5

1Departments of 1Pediatrics 2Division of Pediatrics 3Genetics Institute, Soroka Medical Center, Ben Gunon University of Negev Beer-Sheva, Israel 4Department of Genetics and Howard Hughes Medical Institute, Harvard University Boston, MA, USA 5Ophthalmobgy, University of Iowa Iowa City, IA 52242–1083, USA

* To whom correspondence should be addressed

Received April 6, 1994; Accepted June 1, 1994

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis plgmentosa, 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-Bledl 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 homozygoslty mapping.


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