title: A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
abstract: Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which causes 2,8-dihydroxy-adenine urolithiasis. The estimated incidence of heterozygosity in Caucasian and Japanese populations is 1%. Mutant alleles responsible for the disease have been classified as APRT*Q0 (type I) and APRT* (type II). In our previous study, we demonstrated in APRT*J a single common base change which accounts for 70% of the Japanese mutants. The present report describes the analysis of an APRT*Q0 mutation in Japanese subjects. Two nucleotide substitutions common to all seven affected alleles from four unrelated subjects (three homozygotes and a heterozygote) were identified: G----A at nucleotide position 1453 and C----T at 1456. The G----A altered the amino acid Trp98 to a stop codon. The C----T did not alter Ala99. These point mutations were demonstrated by sequence analysis of polymerase chain reaction (PCR)-amplified genomic DNA and cDNA. The G----A change at 1453 results in the elimination of a PflMI site in the APRT gene. PflMI digests, which were used to confirm the G----A transition, can be useful in screening for this specific mutation.
authors.affiliation: Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor 48109-0358.
authors.forename: A
authors.initials: A
authors.lastname: Mimori
authors.forename: Y
authors.initials: Y
authors.lastname: Hidaka
authors.forename: V C
authors.initials: VC
authors.lastname: Wu
authors.forename: S A
authors.initials: SA
authors.lastname: Tarlé
authors.forename: N
authors.initials: N
authors.lastname: Kamatani
authors.forename: W N
authors.initials: WN
authors.lastname: Kelley
authors.forename: T D
authors.initials: TD
authors.lastname: Pallela
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D015139:Blotting, Southern; D002460:Cell Line; D015342:DNA Probes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D000228:Adenine Phosphoribosyltransferase