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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

Summary

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.

Keywords

Codon Adenine Nucleotide Substitution Mutant Allele Hybridization Method 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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