Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system

T. Funato, Y. Nishiyama, N. Ioritani, R. Matsuki, K. Yoshida, M. Kaku, T. Sasaki, H. Ideguchi, J. Ono

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


We have applied an established technique, the polymerase chain reaction (PCR) with LightCycler technology, to a single disease with well-defined mutations. This assay produces results within only 30 min by combining PCR and fluorescence detection in one tube without electrophoretic band detection. In this study, we found 2,8-dihydroxyadenine (DHA) lithiasis in Japanese patients who were heterozygous for Japanese-type (type II) adenine phosphoribosyltransferase (APRT) deficiency (APRT*J). These patients, from a family with 2,8-DHA lithiasis, had a heterozygous mutation in the J region of the APRT gene. We demonstrated that the present system, using LightCycler technology, was simple, rapid, and reliable for detecting known mutations, and capable of identifying heterozygous and homozygous mutations in this family with APRT deficiency. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)274-279
Number of pages6
JournalJournal of Clinical Laboratory Analysis
Issue number6
Publication statusPublished - 2000
Externally publishedYes


  • 2,8-dihydroxyadenine (DHA) lithiasis
  • Adenine phosphoribosyltransferase (APRT) deficiency
  • LightCycler technology
  • PCR

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology
  • Public Health, Environmental and Occupational Health
  • Clinical Biochemistry
  • Medical Laboratory Technology
  • Biochemistry, medical
  • Microbiology (medical)


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