THE ANALYSIS OF PHOSPHOGLYCERATE MUTASE DEFICIENCY AT MOLECULAR LEVEL

为了分析PGAM- m倾斜患者并研究PGAM的组织特异性表达，我们报道了包含编码人磷酸甘油酸突变酶（PGAM- m）肌肉特异性异构体的整个基因的基因组克隆的分离和分析。该基因全长2.86kb，具有3外显子/ 2内含子的结构，与人类2,3-双磷酸甘油酸突变酶（BPGM）基因的组织结构相似，两个基因的第二内含子精确定位在同一位置。这种结构相似性支持PGAM-M和BPGM从一个共同的祖先基因进化而来。典型的“TATA盒子”和倒置的“CCAAT盒子”立即出现在这个管家基因的5'侧区域。与其他肌肉特异性酶基因比较发现，在5'侧翼区域有一个保守的9-bp元件（GGGGCTGGG），可能与编码肌肉特异性内务酶的基因表达有关。以下实验正在调查中；聚合酶链反应在分子水平上分析PGAM-M缺乏症患者，用PGAM-M特异性内含子探针检测PGAM-M的染色体分配。

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.