GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS

酸性麦芽糖酶缺乏导致糖原累积病（GSD II） 可能以婴儿形式（庞贝氏症）或缓慢 进行性幼年或成年型。 婴儿型是 由于糖原在心脏中大量积聚， 骨骼肌 青少年或成人发病形式的特征是： 进行性骨骼肌无力和继发性呼吸衰竭 肺泡通气不足 酸性α葡萄糖苷酶是一种溶酶体酶， 一种酶，其水解范围为 大聚合物糖原转化为麦芽糖酶。 Martiniuk和同事克隆了 2856 bp的cDNA，并已确定约20个突变， 病人体内的酶 本研究的目的是 相关的酸性麦芽糖酶基因突变的酶，发生在 患者 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 用于寡核苷酸合成、DNA测序、DNA分离、RNA 分离、PCR、北方和南方分析、超离心，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.