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    Am J Hum Genet. 1994 Jun;54(6):1042-9.

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

    Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P.

    Department of Medical Genetics, University of Turku, Findland.

    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.

    PMID: 8198127 [PubMed - indexed for MEDLINE]

    PMCID: PMC1918202

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