TRIOSEPHOSPHATE ISOMERASE DEFICIENCY - REPETITIVE OCCURRENCE OF POINTMUTATION IN AMINO-ACID-104 IN MULTIPLE APPARENTLY UNRELATED FAMILIES

The molecular basis of triosephosphate isomerase (TPI) deficiency was studied in 3 patients from three separate families, In all 3 patients, genomic DNA directly sequenced after amplification by the polymerase chain reaction exhibited the point mutation TPI315C amino acid 104 Glu -->Asp. Although other mutations known to cause TPI deficiency have be en restricted to single families, the amino acid 104 defect has now be en described in nine apparently unrelated families throughout the worl d and is clearly the most frequently occurring form of the disorder. T he basis of the repetitive occurrence of this mutation remains unexpla ined. (C) 1995 Wiley-Lies, Inc.