Human APRT deficiency: Indication for multiple origins of the most common caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair

Human Mutation

Volumn 10, Issue 3, 1997, Pages 251-255

  Menardi, Claudia ^a,c   Schneider, Rainer ^a   Neuschmid Kaspar, Felizia ^b   Klocker, Helmut ^b   Hirsch Kauffmann, Monica ^a   Auer, Bernhard ^a   Schweiger, Manfred ^c  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c FREIE UNIVERSITÄT BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE; DNA; MESSENGER RNA; OLIGONUCLEOTIDE;

ALLELE; ARTICLE; CASE REPORT; CAUCASIAN; ENZYME DEFICIENCY; EXON; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADENINE PHOSPHORIBOSYLTRANSFERASE; BASE SEQUENCE; DNA REPAIR; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE AMPLIFICATION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA; TEMPLATES, GENETIC;

EID: 0030828915     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z     Document Type: Article

References (6)

1. Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Ciu C, Stambrook PJ, Tischfield JA (1991) Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. Am J Hum Genet 49:1306-1311.
2. Chen J, Sahota A, Martin GF, Hakoda M, Kamatani N, Stambrook PJ, Tischfield JA (1993) Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87. Mutat Res 287:217-225.
3. Doppler W, Hirsch-Kauffmann M, Schabel F, Schweiger M (1981) Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT). Hum Genet 57:404-410.
4. Gathof BS, Sahota A, Gresser U, Chen J, Stambrook PJ, Tischfield JA, Zollner N (1991) Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. Klin Wochenschr 69:1152-1155.
5. Hidaka Y, Tarle SA, O'Toole TE, Kelley WN, Palella TD (1987) Nucleotide sequence of the human APRT gene. Nucleic Acids Res 15:9086.
6. Hidaka Y, Palella TD, O'Toole TE, Tarle SA, Kelley WN (1987b) 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.