The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6

• Published in: American journal of human genetics Vol. 54; no. 6; pp. 1042 - 1049
• Main Authors: HAATAJA, L, SCHLEUTKER, J, LAINE, A.-P, RENLUND, M, SAVONTAUS, M.-L, DIB, C, WEISSENBACH, J, PELTONEN, L, AULA, P
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 01.06.1994
• Subjects: Alleles; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; CARBOHYDRATES; Child; chromosome 6; Chromosome Mapping; CHROMOSOMES; Chromosomes, Human, Pair 6; DISEASES; Errors of metabolism; Female; Finland; gene mapping; GENETIC MAPPING; Genetic Markers; HUMAN CHROMOSOME 6; HUMAN CHROMOSOMES; Humans; linkage analysis; Linkage Disequilibrium; Lipids (lysosomal enzyme disorders, storage diseases); Lysosomal Storage Diseases - ethnology; Lysosomal Storage Diseases - genetics; LYSOSOMES; Male; man; MAPPING; Medical sciences; MEMBRANE TRANSPORT; MENTAL DISORDERS; METABOLIC DISEASES; MONOSACCHARIDES; ORGANIC COMPOUNDS; Parents; Pedigree; Polymorphism, Genetic; SACCHARIDES 550400 > Genetics; salla disease; SIALIC ACID; sialic acid storage disease; Sialic Acids - metabolism; Finland; Genetic mapping; Human; Nervous system diseases; Linkage; Family study; Metabolic diseases; Linkage equilibrium; Enzymopathy; Genetic disease; Mucolipidosis; Genetics; C6-Chromosome; Carbohydrate; Salla disease; Molecular biology; Lipomucopolysaccharidosis
• ISSN: 0002-9297; 1537-6605

Salla disease (SD), or adult-type free sialic acid storage disease, is an autosomal recessive lysosomal storage disorder characterized by impaired transport of free sialic acid across the lysosomal membrane and severe psychomotor retardation. Random linkage analysis of a sample of 27 Finnish families allowed us to localize the SD locus to the long arm of chromosome 6. The highest lod score of 8.95 was obtained with a microsatellite marker of locus D6S286 at theta = .00. Evidence for linkage disequilibrium was observed between the SD locus and the alleles of three closely linked markers, suggesting that the length of the critical region for the SD locus is in the order of 190 kb.