GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS

酸性麦芽糖酶缺乏导致糖原累积病（GSD II），可能以婴儿形式存在（Pomp美国疾病）或缓慢进行性的青少年或成人发病形式。 婴儿型由于心肌和骨骼肌中糖原的大量积累而迅速致命。青少年或成人发病形式的特征在于进行性骨骼肌无力和继发于肺泡通气不足的呼吸衰竭。 酸性α葡糖苷酶是一种溶酶体酶，其水解从大聚合物糖原到麦芽糖酶的线性α 1 -4糖苷键。 Martiniuk及其同事于1986年克隆了2856 bp的cDNA，并在患者中发现了大约20种酶突变。 本研究的目的是关联患者中发生的酸性麦芽糖酶基因突变。 这项研究将把酸性麦芽糖酶基因突变与酶活性水平和疾病进程联系起来。 该实验室用于寡核苷酸合成、DNA测序、DNA分离、RNA分离、PCR、超电泳和重组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.