Complementation Analysis of Peroxisomal Diseases by Somatic Cell Fusion View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1987

AUTHORS

J. M. Tager , A. Westerveld , A. Strijland , A. W. Schram , R. B. H. Schutgens , H. Van Den Bosch , R. J. A. Wanders

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. More... »

PAGES

353-357

Book

TITLE

Peroxisomes in Biology and Medicine

ISBN

978-3-642-71327-9
978-3-642-71325-5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-642-71325-5_37

DOI

http://dx.doi.org/10.1007/978-3-642-71325-5_37

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007528937


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