Human Molecular Genetics, Vol 6, 213-219, Copyright © 1997 by Oxford University Press
GB Collin, JD Marshall, LR Cardon and PM Nishina
Alstrom syndrome is a rare autosomal recessive disorder characterized by
pigmentary retinal degeneration, sensorineural hearing loss, childhood
obesity, non-insulin-dependent diabetes mellitus, hyperlipidemia and
chronic nephropathy. Features occasionally observed include acanthosis
nigricans, hypogonadism, hypothyroidism, alopecia, short stature and
cardiomyopathy. We report here the results of a linkage study in a large
French Acadian kindred, as a first step in identifying the molecular basis
of Alstrom syndrome. Evidence of a founder effect made if feasible to use a
homozygosity mapping strategy to identify the chromosomal location of the
Alstrom gene. In a genome- wide screen, haplotype sharing for a region on
chromosome 2 was observed in all affected individuals. Two point linkage
analysis resulted in a maximum lod score of 3.84 (theta = 0.00) for marker
D2S292. By testing additional markers, the disease gene was localized to a
14.9 cM region on chromosome 2p.
ARTICLES
Homozygosity mapping at Alstrom syndrome to chromosome 2p
Jackson Laboratory, Bar Harbor, ME 04609-1500, USA.
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