Basic & Clinical Medicine ›› 2011, Vol. 31 ›› Issue (5): 471-474.

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

QIU Zheng-qing ,WANG Wei ,WEI Min ,QIU Jia-jing ,ZHANG Han-bing ,WU Xiao-yan   

  1. PUMC Hospital, CAMS & PUMC
  • Received:2011-01-05 Revised:2011-01-19 Online:2011-05-05 Published:2011-05-06
  • Contact: QIU Zheng-qing E-mail:zhengqingqiu33@yahoo.com.cn

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

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