GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS

酸性麦芽糖酶缺乏导致糖原堆积症(GSD II) 可能表现为婴儿形式(庞佩氏病)或缓慢出现 进行性青少年或成人起病形式。婴儿的形式是 由于心脏和心脏中糖原的大量积累而迅速致死 骨骼肌。青少年或成人起病的形式的特点是 进行性骨骼肌无力和继发性呼吸衰竭 到肺泡换气不足。酸性α-葡萄糖苷酶是一种溶酶体 一种水解线性A1-4糖苷键的酶，范围从 大分子糖原转化为麦芽糖酶。Martiniuk和他的同事克隆了 在1986年发现了2856个碱基的cDNA，并发现了大约20个突变 病人体内的酶。这项研究的目的是 与酸性麦芽糖酶基因突变相关的酶在 病人。这项研究将把酸性麦芽糖酶基因突变与 酶活性水平和病程。实验室将会是 用于寡核苷酸合成、DNA测序、DNA分离、RNA 分离，聚合酶链式反应，Northern和Southern分析，超速离心，以及 重组DNA技术。

Acid maltase deficiency results in glycogen storage disease (GSD II) that may present in an infantile form (Pompe's Disease) or slowly progressive juvenile- or adult-onset form. The infantile form is rapidly fatal because of massive accumulation of glycogen in cardiac and skeletal muscle. Juvenile- or adult-onset forms are characterized by progressive skeletal muscle weakness and respiratory failure secondary to alveolar hypoventilation. Acid alpha glucosidase is a lysosomal enzyme that hydrolyzes linear a1-4 glucosidic linkages ranging from the large polymer glycogen to maltase. Martiniuk and colleagues cloned the 2856 bp cDNA in 1986 and have identified approximately 20 mutations in the enzyme that occurs in patients. The purpose of this study is to correlate acid maltase gene mutations in the enzyme that occurs in patients. The study will correlate acid maltase gene mutations with level of enzyme activity and course of disease. The laboratory will be used for oligonucleotide synthesis, DNA sequencing, DNA isolation, RNA isolation, PCR, Northern and Southern analysis, ultracentrifugation, and recombinant DNA techniques.