THE ANALYSIS OF PHOSPHOGLYCERATE MUTASE DEFICIENCY AT MOLECULAR LEVEL

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To analyze the patients with PGAM-M deflelency and to investigate tissue specific expression of PGAM, we report the isolation and analysis of genomic clones containing the entire gene encoding the muscle-specific isoform of human phosphoglycerate mutase (PGAM-M). The gene spans 2.86kb and has a three-exon/two-intron structure that is similar to the organization of the human 2,3-bisphosphoglycerate mutase (BPGM) gene, in that the second introns of both genes are localized precisely at the same position. This structural similarity supports that PGAM-M and BPGM evoled from a common ancestral gene. A canonical "TATA box" and an inverted "CCAAT box" are present immediately in the 5'-flanking region of this housekeepinge gene. Comparison with other muscle-specific enzyme genes reveals a conserved 9-bp element (GGGGCTGGG) in the 5'flanking region that may be associated with the expression of genes encoding muscle-specific housekeeping enzymes. The following experiments are under investigation; the analysis of patients with PGAM-M deficiency at molecular level using polymerase chain reaction and the chromosomal assignment of PGAM-M using PGAM-M specific intron probe.