关键词: 糖原累积症III型, AGL基因, 糖原脱支酶, 基因突变

Abstract: Objective To study the AGL gene mutation of patients with glycogen storage disease type Ⅲ in order to know whether there is common mutation 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 sequenced directly. Results Total of 8 mutations was detected in all 14 alleles of 7 patients, including 4 previously reported mutations, c.1735+1G>T, c.665-1G>A, c.958+1G>T and c.4284T>G; 4 novel mutations, c.202delG, c.1017delT, c.1251dupA and c.2546+1G>T. Splicing mutation c.1735+1G>T is the most common mutation in our group, accounting 42.9%. Conclusion 8 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+1G>T may be the most common AGL gene mutation in Chinese patients.

Key words: glycogen storage disease type Ⅲ, AGL gene, glycogen debranching enzyme, mutation