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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Directeur de Recherches à l'I.N.S.E.R.M.
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Rethoré, MO., Kaplan, J.C., Junien, C. et al. 12pter → 12p 12.2: Possible assignment of human triose phosphate isomerase. Hum Genet 36, 235–237 (1977). https://doi.org/10.1007/BF00273263
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DOI: https://doi.org/10.1007/BF00273263