Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease |
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| Authors: | Johanna Schleutker Leena Haataja Martin Renlund Lea Puhakka Juha Viitala Leena Peltonen Pertti Aula |
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| Affiliation: | (1) Department of Medical Genetics, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, SF-20520 Turku, Finland;(2) Department of Obstetrics, University of Helsinki, Helsinki, Finland;(3) Department of Biochemistry, University of Helsinki, Helsinki, Finland;(4) Laboratory of Molecular Genetics, National Public Health Institute, Helsinki, Finland |
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| Abstract: | Summary Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster — human hybrid cell panels, to chromosomes 13 (lamp A) and X (lamp B). |
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