糖原累积症Ⅲ型7例AGL基因突变分析  

Mutation analysis of AGL gene in 7 Chinese patients with glycogen storage disease type Ⅲ

作　　者：邱正庆[1] 王薇[1] 魏珉[1] 仇佳晶[1] 张寒冰[1] 吴晓燕[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院儿科,北京100730

出　　处：《基础医学与临床》2011年第5期471-474,共4页Basic and Clinical Medicine

基　　金："十一五"国家科技支撑计划(2006BAI05A07);北京市科技计划(D0906005040491);北京协和医院临床重点项目(I274102);北京协和医院基础与临床联合公关项目(F274102)

摘　　要：目的研究中国人糖原累积症Ⅲ型AGL基因突变状况,了解中国人AGL基因是否存在常见突变。方法对临床表现为肝大、空腹低血糖、不同程度高乳酸血症、高脂血症或伴肌力减低的7例患者进行外周血DNA直接测序,分析AGL基因突变情况。结果在7例患者的14个等位基因中均检出致病突变。包括已报道突变4个:c.1735+1G>T、c.665-1G>A、c.958+1G>T和c.4284T>G;新突变4个:c.202delG、c.1017delT、c.1251dupA和c.2546+1G>T。已知剪切突变c.1735+1G>T在本组患者中最常见,占42.9%。结论本研究共检出致病突变8种。剪切突变c.1735+1G>T很可能是中国人种糖原累积症Ⅲ型患者AGL基因最常见的致病突变。Objective To study AGL gene mutation of patients with glycogen storage disease type Ⅲ to find mutation rate in Chinese patients.Methods All 7 patients had hepatomegaly,fasting hypoglycemia,variable hyperlactacidemia and hyperlipidemia.Total genomic DNA was extracted from peripheral blood leukocytes of the patients.The coding exons 1-35 of the AGL gene were amplified by polymerase chain reaction（PCR） and then sequenced.Results Total of 8 mutations was detected in all 14 alleles of 7 patients,including 4 previously reported mutations,c.1735＋1GT,c.665-1GA,c.958＋1GT and c.4284TG;4 novel mutations,c.202delG,c.1017delT,c.1251dupA and c.2546＋1GT.Splicing mutation c.1735＋1GT was the most common mutation in our group（42.9%）.Conclusion Eight mutations has been identified in this study,including 4 splicing mutations,2 deletion mutations,1 nonsence mutation and 1 duplication mutation.Splicing mutation c.1735＋1GT is the most common AGL gene mutation in Chinese patients.

关 键 词：糖原累积症Ⅲ型 AGL基因 糖原脱支酶 基因突变 

分 类 号：R589.1[医药卫生—内分泌]