Pompe disease (PD) is a rare autosomal recessive multi-systemic lysosomal storage disorder, caused by mutations in the acid alpha-glucosidase (GAA) gene located on 17q25.2-q25.3. It is one of about 50 rare genetic diseases categorized as lysosomal storage disorders. This disease is characterized by a range of different symptoms related to acid alpha-glucosidase deficiency. Mutation recognition in the GAA gene can be very significant for purposes such as therapeutic interference, early diagnosis and genotype-phenotype relationship. In the current study, peripheral blood samples were gathered from patients with PD and healthy members of three families. Enzymatic activity of GAA was checked. Then, mutation detection was performed by polymerase chain reaction followed by direct sequencing of all exons in samples with decreased enzyme activity. The identified mutations were investigated using bioinformatics tools to predict possible effects on the protein product and also to compare the mutated sequence with near species. Three novel mutations (c.1966-1968delGAG, c.2011-2012delAT and c.1475-1481dupACCCCAC) were identified in the GAA gene. Assessment of the effects of these mutations on protein structure and function showed the possibility of harmful effects and their significant alterations in the protein structure. The three novel GAA gene mutations detected in this study expand the information about the molecular genetics of PD and can be used to helpdiagnosis and genetic counseling of affected families.

庞贝病 (PD) 是一种罕见的常染色体隐性遗传多系统溶酶体贮积症，由位于 17q25.2-q25.3的酸性 α-葡萄糖苷酶(GAA)基因突变引起。它是大约 50 种被归类为溶酶体贮积症的罕见遗传疾病之一。这种疾病的特征在于与酸性α-葡萄糖苷酶缺乏相关的一系列不同症状。GAA中的突变识别基因对于治疗干扰、早期诊断和基因型-表型关系等目的可能非常重要。在目前的研究中，从 PD 患者和三个家庭的健康成员中收集外周血样本。检查GAA的酶活性。然后，通过聚合酶链式反应进行突变检测，然后对酶活性降低的样品中的所有外显子进行直接测序。使用生物信息学工具研究确定的突变，以预测对蛋白质产物的可能影响，并将突变序列与邻近物种进行比较。在GAA中发现了三个新的突变（c.1966-1968delGAG、c.2011-2012delAT 和 c.1475-1481dupACCCCAC）基因。对这些突变对蛋白质结构和功能影响的评估显示了有害影响的可能性及其对蛋白质结构的显着改变。本研究检测到的三个新的GAA基因突变扩展了有关 PD 分子遗传学的信息，可用于帮助受影响家庭的诊断和遗传咨询。