ASSIGNMENT OF STEROL CARRIER PROTEIN-X STEROL CARRIER PROTEIN-2 TO 1P32 AND ITS EXCLUSION AS THE CAUSATIVE GENE FOR INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS

In the positional cloning of a disease gene with an unknown protein de fect a spectrum of molecular biological methods is applied after linka ge has been established. It is reasonable to analyze in detail any rel evant candidate gene mapping to the particular chromosomal region. We report here the refined chromosomal assignment of SCPX/SCP2, a gene co ding for the protein that is believed to have an important role in lip id metabolism by transporting many kinds of lipid molecules between or ganelles. This gene represents an excellent candidate gene for infanti le neuronal ceroid lipofuscinosis, earlier assigned to 1p32 by us, sin ce lipid metabolism in the patient's brain appears to be significantly disturbed. Expression and structural analyses by Northern, Southern a nd Western blotting as well as SSCP and direct sequencing did not dete ct any differences between the cDNAs of patients and controls. Consequ ently, it is unlikely that a mutation in SCPX/SCP2 is the underlying c ause of this severe neurodegenerative disease of childhood.