CAJ | 학술논문

目的探讨Ⅱ型糖原贮积病（GSDⅡ）与酸性α-葡萄糖苷酶基因突变的关系。方法提取儿童期发病的GSDⅡ患儿基因组DNA及总RNA ，采用PCR及核酸测序的方法研究其突变。结果患儿GAA基因3个位点存在突变，包括2个错义突变（第2外显子c ．199G＞A突变和第13外显子c ．1798C＞ T突变）和1个供体剪接位点的同义突变（第2外显子c ．546G＞ T突变）。结论 GAA基因第2外显子上有1个新的剪接体突变，该突变与GSDⅡ的发病相关。
목적탐토Ⅱ형당원저적병（GSDⅡ）여산성α-포도당감매기인돌변적관계。방법제취인동기발병적GSDⅡ환인기인조DNA급총RNA ，채용PCR급핵산측서적방법연구기돌변。결과환인GAA기인3개위점존재돌변，포괄2개착의돌변（제2외현자c ．199G＞A돌변화제13외현자c ．1798C＞ T돌변）화1개공체전접위점적동의돌변（제2외현자c ．546G＞ T돌변）。결론 GAA기인제2외현자상유1개신적전접체돌변，해돌변여GSDⅡ적발병상관。
Objective To probe the relationship between the Glycogen storage disease type Ⅱ (GSDⅡ) and acid alpha-glycosidase (GAA) .Methods Extract childhood-onset GSD Ⅱ children genomic DNA and total RNA ,using PCR and nucleic acid sequencing methods to study the mutation .Results 3 gene locus muta-tions are found in children patients′GAA ,including two missense mutations (exon 2 c .199G>A mutation and exon 13 and c .1798C> T mutation) and a donor splice site synonymous mutation (exon 2 c .546G> T mutation) .Conclusion GAA gene exon 2 has a new spliceosome mutation which is associated with the at-tack of GSD Ⅱ .