糖原累积病Ib型患儿基因突变分析与临床研究  

Gene mutations and clinical manifestations in children with glycogen storage disease type Ib

作　　者：梁翠丽[1] 刘丽[1] 盛慧英[1] 江敏妍[1] 尹曦[1] 梅慧芬[1] 程静[1] 张文[1] 范莉萍[1] 

机构地区：[1]广州医学院附属广州市妇女儿童医疗中心内分泌代谢科,广东广州510623

出　　处：《中国当代儿科杂志》2013年第8期661-665,共5页Chinese Journal of Contemporary Pediatrics

基　　金："十一五"国家科技支撑计划项目(2006BAI05A07);广州市科技局支撑项目(2010J-E231-1)

摘　　要：目的糖原累积病Ib型(GSDIb)是由于SLC37A4基因突变引起葡萄糖-6-磷酸转移酶(G6PT)活性缺陷所致,该病患者大部分有反复感染及炎症性肠病的发生,预后较差。SLC37A4基因的检测对GSDIb患者的诊断、分型、预测患者的预后尤为重要。本文旨在研究糖原累积病Ib型患儿SLC37A4基因突变的情况,探讨基因型与临床表型的关系。方法应用聚合酶链反应直接测序的方法,对拟诊GSDIb型的28例患儿行SLC37A4基因外显子及其相邻区域的突变筛查。结果 7例患儿检测到SLC37A4基因突变,检出率为25%(7/28例),包括错义突变:p.Gly149Glu(9/13,69%)、p.Gly115Arg(1/13,8%)、p.Pro191Leu(1/13,8%);移码突变:c.959-960 insT(1/13,8%);剪接突变:c.870+5G>A(1/13,8%)。结论 c.959-960 insT为新突变,p.Gly149Glu为本研究最常见的突变,p.Gly149Glu突变可能与患儿的严重感染相关。Objective Glycogen storage disease type Ib （GSDIb） is caused by a deficiency ofglucose-6-phosphate translocase （G6PT） activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. This study aims to analyze SLC37A4 gene mutations in Chinese GSDIb patients and to investigate the relationship between its genotypes and clinical manifestations. Methods All exons and their flanking introns of SLC37A4 gene in 28 Chinese children with a primary diagnosis of GSDIb were screened by PCR combined with direct DNA sequencing to detect SLC37A4 gene mutations. Results Five SLC37A4 gene mutations were detected in 7 （25%） of the 28 children, i.e., p.Gly149Glu （9/13, 69%）, p.Glyll5Arg （1/13, 8%）, p.Prol91Leu （1/13, 8%）, c.959-960 insT （1/13, 8%） and c.870＋5G〉A （1/13, 8%）. Conclusions In this study, c.959-960 insT is a novel mutation and p.Gly149Glu is the most common mutation, p.Gly149Glu may be associated with severe infections in children with GSDIb.

关 键 词：糖原累积病Ib型 葡萄糖-6-磷酸转移酶 SLC37A4基因 突变 儿童 

分 类 号：R725.8[医药卫生—儿科]