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

@article{Kamatani1990CrossoversWA,
  title={Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation},
  author={Naoyuki Kamatani and Shoko Kuroshima and Masayuki Hakoda and T. D. Palella and Yuji Hidaka},
  journal={Human Genetics},
  year={1990},
  volume={85},
  pages={600-604}
}
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… CONTINUE READING

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