Abstract
We have used complementation analysis after somatic cell fusion to investigate the genetic relationship between genetic diseases in man in which there is a partial or general impairment of peroxisomal functions including the ability to introduce the ether bond in ether-phospolipids. The activity of acyl-CoA: dihydroxyacetonephosphate acyltransferase, which is deficient in these diseases, was measured in cultured skin fibroblasts before and after fusion. The results show that the cell lines studied can be subdivided into at least three complementation groups. Group 1 is represented by the rhizomelic form of Chondrodysplasia Punctata; group 2 comprises the Cerebro-hepato-renal (Zellweger) syndrome, the infantile form of Refsum disease and Hyperpipecolic Acidaemia; and group 3 is represented by the neonatal form of Adrenoleukodystrophy.
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Tager, J.M. et al. (1987). Complementation Analysis of Peroxisomal Diseases by Somatic Cell Fusion. In: Fahimi, H.D., Sies, H. (eds) Peroxisomes in Biology and Medicine. Proceedings in Life Sciences. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-71325-5_37
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DOI: https://doi.org/10.1007/978-3-642-71325-5_37
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