Human Genetics

, Volume 36, Issue 2, pp 235–237 | Cite as

12pter → 12p 12.2: Possible assignment of human triose phosphate isomerase

  • Marie-Odile Rethoré
  • J. Cl. Kaplan
  • Claudine Junien
  • J. Lejeune
Short Communications

Summary

Red cell triose-phosphate isomerase (TPI) was determined, together with other enzymes, in three patients with chromosome 12 abnormalities.

In patient No. 1 (trisomy of the segment 12pter → 12q12) and in patient No. 2 (trisomy of the segment 12pter → 12p12.1), the TPI activity was significantly increased. In patient No. 3 (deletion of the segment 12p11 → 12p12.2), the TPI activity was in the normal range. These results suggest that the human TPI locus is located on the chromosome 12 short arm, between 12pter and 12p12.2.

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References

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Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • Marie-Odile Rethoré
    • 1
  • J. Cl. Kaplan
    • 2
  • Claudine Junien
    • 2
  • J. Lejeune
    • 1
  1. 1.Institut de ProgenèseParisFrance
  2. 2.Institut de Pathologie MoleculaireParisFrance

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