Journal Article

Homozygosity Mapping of Alström Syndrome to Chromosome 2p

Gayle B. Collin, Jan D. Marshall, Lon R. Cardon and Patsy M. Nishina

in Human Molecular Genetics

Volume 6, issue 2, pages 213-219
Published in print February 1997 | ISSN: 0964-6906
Published online February 1997 | e-ISSN: 1460-2083 | DOI:
Homozygosity Mapping of Alström Syndrome to Chromosome 2p

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Alström 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 Alström syndrome. Evidence of a founder effect made it feasible to use a homozygosity mapping strategy to identify the chromosomal location of the Alström 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 (θ = 0.00) for marker D2S292. By testing additional markers, the disease gene was localized to a 14.9 cM region on chromosome 2p.

Journal Article.  3020 words.  Illustrated.

Subjects: Genetics and Genomics

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