Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis

摘要: In the positional cloning of a disease gene with an unknown protein defect spectrum molecular biological methods is applied after linkage has been established. It reasonable to analyze in detail any relevant candidate mapping particular chromosomal region. We report here refined assignment SCPx/SCP2, coding for that believed have important role lipid metabolism by transporting many kinds molecules between organelles. This represents excellent infantile neuronal ceroid lipofuscinosis, earlier assigned 1p32 us, since patient's brain appears be significantly disturbed. Expression and structural analyses Northern, Southern Western blotting as well SSCP direct sequencing did not detect differences cDNAs patients controls. Consequently, it unlikely mutation SCPx/SCP2 underlying cause this severe neurodegenerative childhood.