title: Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.
abstract: 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 spice 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.
authors: Medizinische Poliklinik, Universität München.
authors: B S
authors: BS
authors: Gathof
authors: A
authors: A
authors: Sahota
authors: U
authors: U
authors: Gresser
authors: J
authors: J
authors: Chen
authors: P J
authors: PJ
authors: Stambrook
authors: J A
authors: JA
authors: Tischfield
authors: N
authors: N
authors: Zöllner
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D000328:Adult; D002874:Chromosome Mapping; D004200:Diseases in Twins / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D007669:Kidney Calculi / Q000201:enzymology / Q000235:genetics*; D008297:Male; D016297:Mutagenesis, Site-Directed / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014430:Twins, Monozygotic / Q000235:genetics
chemical_list: D000228:Adenine Phosphoribosyltransferase