Faculty Research 1990 - 1999

Title

Homozygosity mapping at Alstrom syndrome to chromosome 2p.

Document Type

Article

Publication Date

1997

Keywords

Chromosome-Mapping, Chromosomes-Human-Pair-2, Diabetes-Mellitus-Non-Insulin-Dependent: ge, Female, Hearing-Loss-Sensorineural: ge, Homozygote, Human, Linkage-(Genetics), Male, Obesity: ge, Pedigree, Retinal-Degeneration: ge, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Syndrome

JAX Source

Hum Mol Genet 1997 Feb;6(2):213-9

Grant

CA34196/CA/NCI

Abstract

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.