MOLECULAR BIOLOGY OF ACID MALTASE DEFICIENCY

遗传性溶酶体酸性麦芽糖酶缺乏导致糖原储存 II型疾病（GSD II），其导致不同严重程度的病症。 研究人员已经描述了一些分子生物学的特点， 人酸性麦芽糖酶基因，以前包括克隆人酸性麦芽糖酶cDNA 麦芽糖酶：分离、测序和表达编码区;分离 并分析结构基因;确定酸的突变 麦芽糖酶同工酶 这项研究将进一步表征分子和 突变基因和蛋白质的生化特性， 具有不同临床表型的GSD II，以关联结构 和功能该基因的启动子和调节区将是 表征了 Martiniuk博士是核心实验室的联合主任 该实验室将用于：DNA分离，寡核苷酸 合成，层流罩使用，血液分离，PCR，超 离心、Western分析、重组DNA技术和ELISA。

Inherited deficiency of lysosomal acid maltase results in glycogen storage disease type II (GSD II) which results in disorders of varying severity. The investigator has characterized some of the molecular biology of the human acid maltase gene previously including cloning a cDNA for human acid maltase: isolating, sequencing and expressing the coding region; isolating and analyzing the structural gene; determining mutations for an acid maltase isoenzyme. This study will further characterize the molecular and biochemical properties of the mutant gene and protein from patients with GSD II with varying clinical phenotypes in order to correlate structure and function. The promotor and regulatory regions of the gene will be characterized. Dr. Martiniuk is the Co-Director of the Core Laboratory and the laboratory will be utilized for: DNA isolation, oligonucleotide synthesis, laminar flow hood use, blood separation, PCR, ultra- centrifugation, Western analysis, recombinant DNA techniques and ELISA.