title: Homozygosity mapping at Alström syndrome to chromosome 2p.
abstract: 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 if 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 (theta = 0.00) for marker D2S292. By testing additional markers, the disease gene was localized to a 14.9 cM region on chromosome 2p.
authors.affiliation: Jackson Laboratory, Bar Harbor, ME 04609-1500, USA.
authors.forename: G B
authors.initials: GB
authors.lastname: Collin
authors.forename: J D
authors.initials: JD
authors.lastname: Marshall
authors.forename: L R
authors.initials: LR
authors.lastname: Cardon
authors.forename: P M
authors.initials: PM
authors.lastname: Nishina
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009765:Obesity / Q000235:genetics; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics; D013577:Syndrome