THE ANALYSIS OF PHOSPHOGLYCERATE MUTASE DEFICIENCY AT MOLECULAR LEVEL

为了分析患者PGAM-M deflelency和调查PGAM的组织特异性表达，我们报告了分离和分析的基因组克隆包含整个基因编码的肌肉特异性亚型的人磷酸甘油酸酯酶（PGAM-M）。该基因跨度为2.86kb，具有三外显子/两内含子结构，与人类2，3-二磷酸甘油酸酯（BPGM）基因的组织相似，因为两个基因的第二内含子精确地定位在同一位置。这种结构上的相似性支持PGAM-M和BPGM是从一个共同的祖先基因进化而来的。一个典型的“TATA盒”和一个反向的“CCAAT盒”直接存在于这个管家基因的5 '侧翼区域。与其他肌肉特异性酶基因的比较揭示了在5 '侧翼区的保守的9-bp元件（GGGGCTGGG），其可能与编码肌肉特异性管家酶的基因的表达相关。正在研究以下实验：使用聚合酶链反应在分子水平上分析PGAM-M缺乏症患者，以及使用PGAM-M特异性内含子探针进行PGAM-M染色体分配。

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.