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

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