GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS

酸性麦芽糖酶缺乏导致糖原储存病（GSD II），可能以婴儿形式出现（PompUs病）或缓慢进展的青少年或成人发病形式。由于糖原在心脏和骨骼肌中大量积聚，婴儿型可迅速致死。青少年或成人发病形式的特点是进行性骨骼肌无力和呼吸衰竭继发于肺泡低通气。酸性-葡萄糖苷酶是一种溶酶体酶，可水解从大聚合物糖原到麦芽糖酶的线性a1-4型葡萄糖苷键。Martiniuk和他的同事在1986年克隆了2856 bp的cDNA，并在患者体内发现了大约20个酶突变。本研究的目的是将患者体内发生的酸性麦芽糖酶基因突变联系起来。该研究将酸性麦芽糖酶基因突变与酶活性水平和病程联系起来。该实验室用于寡核苷酸合成、DNA测序、DNA分离、RNA分离、PCR、超离心和重组DNA技术。

Acid maltase deficiency results in glycogen storage disease (GSD II) that may present in an infantile form (PompUs 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 was used for oligonucleotide synthesis, DNA sequencing, DNA isolation, RNA isolation, PCR, ultracentrifugation, and recombinant DNA techniques.