GENETIC-POLYMORPHISM IN THE 3' UNTRANSLATED REGION OF HUMAN PHOSPHOGLUCOMUTASE-1

A 317-bp segment of DNA from the 3' region of the human phosphoglucomu tase-1 (PGM1) gene has been examined by a non-radioactive technique fo r the occurrence of single-strand conformation polymorphism (SSCP). Ei ght phenotypes were detected and attributed to the presence of four al leles. Genetic analysis of 75 unrelated individuals and six CEPH famil ies whose PGM1 protein phenotypes were known revealed strong associati on between the PGM1 '+' and '-' isozyme phenotypes and the variation d etected in this region, but no association with the PGM1 1 and PGM1 2 isozyme phenotypes. DNA sequence analysis demonstrated the presence of three nucleotide substitutions underlying the alleles, which were loc ated in the untranslated region of the PGM1 gene. There was complete c orrelation between the nucleotide sequence and the phenotype detected by SSCP analysis. This study provides support for the model that the P GM1 isozyme polymorphism is determined at two distinct sites in the co ding sequence, one coding for the '1' and '2' alleles and the other co ding for the '+' and '-' alleles, separated by a region where intragen ic recombination occurs.