Nature Genetics
5, 392 - 396 (1993)
doi:10.1038/ng1293-392
Linkage of Bardet−Biedl syndrome to chromosome 16q and evidence for non−allelic genetic heterogeneityAnne E. Kwitek-Black1, Rivka Carmi2, 3, Geoffrey M. Duyk4, Kenneth H. Buetow5, Khalil Elbedour2, Ruti Parvari3, Chandra Naidu Yandava4, Edwin M. Stone6
& Val C. Sheffield1
1Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA
2Division of Pediatrics, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel
3Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel
4Department of Genetics and Howard Hughes Medical Institute, Harvard University, Boston, Masachusetts, USA
5Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
6Department of Ophthalmology, The University of Iowa, Iowa City, Iowa 52242, USA Correspondence should be addressed to V.C.S. or E.M.S. Bardet−Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Other findings include hypertension, diabetes mellitus and renal and cardiovascular anomalies. We have performed a genome−wide search for linkage in a large inbred Bedouin family. Pairwise analysis established linkage with the locus D16S408 with no recombination and a lod score of 4.2. A multilocus lod score of 5.3 was observed. By demonstrating homozygosity, in all affected individuals, for the same allele of marker D16S408, further support for linkage is found, and the utility of homozygosity mapping using inbred families is demonstrated. In a second family, linkage was excluded at this locus, suggesting non−allelic genetic heterogeneity in this disorder.
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