Restriction Fragment Length Polymorphisms of HPRT and APRT Genes in Japanese Population
HPRT and APRT are the enzymes of salvage pathway in purine metabolism. A deficiency of HPRT is associated with two clinical syndrome in human. A virtually complete deficiency of the enzyme occurs in patient with Lesch-Nyhan syndrome 1, 2 and a partial deficiency of HPRT in severe form of gout.3 APRT enzyme deficiency is a relatively rare, autosomal reccesive disease. Homozygous affected individuals display elevated levels of adenine and its oxidized derivatives 8-hydroxyadenine and 2, 8-dihydroxyadenine leading to urolithiasis and renal failure.4
KeywordsRestriction Fragment Length Polymorphism Japanese Population Hypoxanthine Phosphoribosyltransferase Locus Allele Adenine Phosphoribosyltransferase
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