Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

Anne E. Kwitek-Black, Rivka Carmi, Geoffrey M. Duyk, Kenneth H. Buetow, Khalil Elbedour, Ruti Parvari, Chandra Naidu Yandava, Edwin M. Stone, Val C. Sheffield

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147 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)392-396
Number of pages5
JournalNature Genetics
Volume5
Issue number4
DOIs
StatePublished - Dec 1993

ASJC Scopus subject areas

  • Genetics

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    Kwitek-Black, A. E., Carmi, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M., & Sheffield, V. C. (1993). Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genetics, 5(4), 392-396. https://doi.org/10.1038/ng1293-392