Abstract
Approximately 40 cases of type I adenine phosphoribosyltransferase (APRT) deficiency (complete deficiency) have been described. About 20 different mutations have been identified in patients with this disorder (Hidaka et al. 1987, Chen et al. 1991, Sahota et al. 1991). In Germany, five other cases of type I APRT deficiency have been found, two of Turkish and three of unknown ethnic origin. Our group has described a type I Caucasian family from southern Germany (Zöllner and Gresser 1990). The aim of the present study was to investigate the molecular nature of the mutation in this family (Gathof et al. 1991a).
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Carothers AM, Urlaub G, Mucha J, Harvey RB, Chasin LA, Grunberger D (1990) Splicing mutations in the CHO DHFR gene, preferentially induced by (+/-)-3 alpha, 4 beta-dihydroxy-1 alpha, 2 alpha-epoxy-1,2,3,4-tetrahydrobenzo[c]phenanthrene. Proc Nati Acad Sci USA 87: 5464–5468
Chen J, Sahota A, Stambrook P, Tischfield JA (1991) Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase gene: The nature and frequency of errors caused by Taq DNA polymerase. Mutat Res (in press)
Gathof BS, Sahota A, Chen J, Gresser U, Stambrook PS, Tischfield JA, Zöllner N (1991a) Identification of a common splice donor mutation at the APRT locus in a German family. 7th International/3rd European Joint Symposium on Purine and Pyrimidine Metabolism in Man, Bournemouth. Int J Pur Pyr Res 2, Suppl 1: 48
Gathof BS, Sahota A, Gresser U, Chen J, Stambrook PJ, Tischfield JA, Zöllner N (1991b) Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. Klin Wochenschr (in press)
Hidaka Y, Pallela T, O’Toole TE, Tarlé SA, Kelley WN (1987) Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J Clin Invest 80: 1409–1415
Sahota A, Chen J, Stambrook PJ, Tischfield JA (1991) Mutational basis of adenine phosphoribosyltransferase deficency. 7th International/3rd European Joint Symposium on Purine and Pyrimidine Metabolism in Man, Bournemouth. Int J Pur Pyr Res 2, Suppl 1: 159
Zöllner N and Gresser U (1990) Nephrolithiasis in twins with APRT-deficiency. Stones as a marker of an inborn error of metabolism. Bildgebung/Imaging 57: 64–66
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Plenum Press, New York
About this chapter
Cite this chapter
Gathof, B.S. et al. (1991). A Splice Mutation at the Adenine Phosphoribosyltransferase Locus Detected in a German Family. In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_18
Download citation
DOI: https://doi.org/10.1007/978-1-4615-7703-4_18
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4615-7705-8
Online ISBN: 978-1-4615-7703-4
eBook Packages: Springer Book Archive