Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet 1993 Dec;5(4):392-6
Date
12/01/1993Pubmed ID
8298649DOI
10.1038/ng1293-392Scopus ID
2-s2.0-0027426195 (requires institutional sign-in at Scopus site) 159 CitationsAbstract
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.
Author List
Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VCAuthor
Anne E. Kwitek PhD Professor in the Physiology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Chromosome MappingChromosomes, Human, Pair 16
Female
Genetic Linkage
Homozygote
Humans
Hypogonadism
Intellectual Disability
Lod Score
Male
Obesity
Pedigree
Polydactyly
Retinitis Pigmentosa
