Restriction Fragment Length Polymorphisms of HPRT and APRT Genes in Japanese Population

  • Nobuaki Ogasawara
  • Haruko Goto
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)


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


Restriction Fragment Length Polymorphism Japanese Population Hypoxanthine Phosphoribosyltransferase Locus Allele Adenine Phosphoribosyltransferase 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    W.L. Nyhan, and M. Lesch, A familiar disorder of uric acid metabolism and central nervous system function, Am. J. Med. 36: 561 (1964).PubMedCrossRefGoogle Scholar
  2. 2.
    J.E. Seegmiller, F.M. Rosenbloom, and W.N. Kelley, An enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis, Science 155: 1682 (1967).PubMedCrossRefGoogle Scholar
  3. 3.
    W.N. Kelley, F.M. Rosenbloom, J.F. Henderson, and J.E. Seegmiller, A specific enzyme defect in gout associated with overproduction of uric acid, Proc. Natl, Acad. Sci. USA 57: 1735 (1967).CrossRefGoogle Scholar
  4. 4.
    A.H. Simmons and K.J. Van Acker, Adenine phosphoribosyltransferase deficiency: 2, 8-dihydroxyadenine lithiasis, in: The Metabolic Basis of Inherited Disease, J.B. Stanbury et al, ed., McGraw-Hill Book Co., New York, pp 1144. (1983).Google Scholar
  5. 5.
    R.L. Nussbaum, W.E. Crowder, W.L. Nyhan, and C.T. Caskey, A three allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man, Proc. Natl. Acad. Sci. USA 80: 4035 (1983).PubMedCrossRefGoogle Scholar
  6. 6.
    P.J. Stambrook, M.K. Dush, J.J. Trill and J.K. Tischfield, Cloning of functional human adenine phosphoribosyltransferase(APRT) gene: Identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutamt, Somat. Cell Mol. Genet. 10: 359 (1984).PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Nobuaki Ogasawara
    • 1
  • Haruko Goto
    • 1
  1. 1.Institute for Developmental ResearchAichi Prefectural ColonyAichiJapan

Personalised recommendations