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

doi:10.1007/BF00193582

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Article

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

Human genetics - 1 Oct 1990

Kamatani N, Kuroshima S, Hakoda M, Palella T D, Hidaka Y

Abstract excerpt

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 (...

Topics

Adenine Phosphoribosyltransferase
Blotting, Southern
Crossing Over, Genetic
Genetic Linkage
Humans
Kidney Diseases
Mutation
Oligonucleotide Probes
Restriction Mapping
Urinary Calculi

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