Human Genetics

, Volume 85, Issue 6, pp 600–604 | Cite as

Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation

  • Naoyuki Kamatani
  • Shoko Kuroshima
  • Masayuki Hakoda
  • Thomas D. Palella
  • Yuji Hidaka
Original Investigations


Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and renal failure is present at a high frequency among the Japanese but not other ethnic groups. A special type of mutant allele, designated APRT*J, with a nucleotide substitution at codon 136 from ATG (Met) to ACG (Thr) is carried by approximately 79% of all Japanese 2,8-dihydroxyadenine urolithiasis patients. We analyzed mutant alleles of 39 APRT deficient patients using a specific oligonucleotide hybridization method after in vitro amplification of a part of the genomic APRT sequence. We found that 24 had only APRT*J alleles. Determination of the haplotypes of 194 APRT alleles from control Japanese subjects and of the 48 different APRT*J alleles indicated that normal alleles occur in four major haplotypes, whereas all APRT*J alleles occur in only two. These results suggest that all APRT*J alleles have a single origin and that this mutant sequence has been maintained for a long period, as calculated from the frequency of the recombinant alleles.


Codon Adenine Nucleotide Substitution Mutant Allele Hybridization Method 
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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Naoyuki Kamatani
    • 1
  • Shoko Kuroshima
    • 1
  • Masayuki Hakoda
    • 1
  • Thomas D. Palella
    • 2
  • Yuji Hidaka
    • 2
  1. 1.Institute of Rheumatology, Tokyo Women's Medical CollegeTokyoJapan
  2. 2.Department of Internal MedicineUniversity of Michigan Medical CenterAnn ArborUSA

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