Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family |
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| Authors: | B. S. Gathof A. Sahota U. Gresser J. Chen P. J. Stambrook J. A. Tischfield N. Zöllner |
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| Affiliation: | (1) Medizinische Poliklinik der Universität München, Deutschland;(2) Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA;(3) Department of Anatomy and Cell Biology, University of Cincinnati College of Medicine, Cincinnati, USA |
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| Abstract: | Summary We examined the molecular basis of adenine phosphoribosyltransferase (APRT) deficiency in homozygous-deficient, identical twin brothers who were born to non-consanguineous German parents. DNA was isolated from blood, and the APRT gene was amplified by PCR, subcloned into M13, and sequenced completely. A single T insertion between bases 1831–1832 or 1832–1833 was identified. This alters the consensus sequence at the exon 4 — intron 4 splice donor site and leads to aberrant splicing. The same mutation has been described previously in two affected brothers from Belgium, and the Indianapolis group has also identified it in two other, unrelated Caucasian patients. Thus, this mutation may be a common cause of APRT deficiency in the Caucasian population.Abbreviations APRT adenine phosphoribosyltransferase - DHA 2,8-dihydroxyadenine - PCR polymerase chain reaction - PP-ribose-P 5-phosphoribosyl-1-pyrophosphate - RFLP restriction fragment length polymorphism |
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| Keywords: | APRT deficiency Molecular genetics Mutation Polymerase chain reaction (PCR) |
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