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Hypoxanthine-Guanine Phosphoribosyltransferase and Deutan Colour Blindness: The Relative Positions of Their Loci on the X-Chromosome

  • B. T. Emmerson
  • L. Thompson
  • D. C. Wallace
  • M. Anne Spence
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)

Abstract

Many studies of X-linked characteristics have suggested that the loci for colour blindness, glucose-6-phosphate dehydrogenase (G-6 PD) and antihaemophilic globulin (AHG) form a fairly close-linked group on the X chromosome, all of which are moderately distant from the locus for Xg antigen (1). Little information is available however concerning the site of the locus for hypoxanthineguanine phosphoribosyltransferase (HGPRTase) on the X chromosome. This locus has been regarded as being not close to that for G-6 PD because two cross-overs were observed in a single family (2) and no linkage was detected between the HGPRTase locus and Xg antigen (3). Thus, when a patient with a moderate deficiency of HGPRTase, who presented with uric acid calculi and severe gouty arthritis without any neurological signs was found also to be colour blind, members of his family were studied to see if useful information could be obtained concerning the relative positions of the loci for HGPRTase and colour blindness.

Keywords

Recombination Fraction Purine Base Colour Blindness Erythrocyte Lysate Double Heterozygote 
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.

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Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • B. T. Emmerson
    • 1
    • 2
  • L. Thompson
    • 1
    • 2
  • D. C. Wallace
    • 1
    • 2
  • M. Anne Spence
    • 1
    • 2
  1. 1.Department of MedicineThe University of Queensland Australia
  2. 2.Institute of Medical ResearchUniversity of CaliforniaUSA

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