Human Adenine Phosphoribosyltransferase (APRT) Deficiency: Single Mutant Allele Common to the Japanese
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Adenine phosphoribosyltransferase (APRT) is a purine salvage enzyme, which catalyzes the conversion of adenine to adenylic acid in the presence of phosphoribosylpyrophosphate (PRPP). In a complete APRT deficient subject, accumulated adenine is oxidized to 2, 8-dihydroxyadenine (2, 8-DHA) by xanthine oxidase. 2, 8-DHA excreted into urine precipitates and then forms a urinary stone.1 Partial deficiency develops no clinical symptoms. APRT deficiency is a common genetic disorder caused by a defective APRT gene on chromosome 16 and inherited in an autosomal recessive manner. The APRT gene, which is approximately 2.6 kb in length, consists of five exons and four introns. The frequency of heterozygotes has been estimated to be 0.4% – 1.2%.
KeywordsSickle Cell Anemia Single Nucleotide Substitution Common Genetic Disorder Polymerase Chain Reaction Procedure Enzymatic Amplification
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