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

Abstract

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.