中国当代儿科杂志2012，Vol.14Issue(11)：856-858,3.
糖原累积病Ⅰa型1例及其家系的临床和分子遗传分析
Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa
王艳 1吴虹林 1杜振兰 2刘欣 1李昊 1何玺玉 1王春枝1
作者信息
- 1. 北京军区总医院附属八一儿童医院临床遗传学中心 北京 100700
- 2. 北京军区总医院附属八一儿童医院血液科 北京 100700
- 折叠
摘要
Abstract
Objective To investigate the mutation of glucose-6-phosphatase gene ( G6PC gene) in a patient with glycogen storage disease la. Methods PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations. Results A heterozygous 743 G > A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister. Conclusions G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease la in mainland China.关键词
糖原累积病Ⅰa型/G6PC基因/基因突变Key words
Glycogen storage disease Ia/Glucose-6-phosphatase gene/Gene mutation分类
医药卫生引用本文复制引用
王艳,吴虹林,杜振兰,刘欣,李昊,何玺玉,王春枝..糖原累积病Ⅰa型1例及其家系的临床和分子遗传分析[J].中国当代儿科杂志,2012,14(11):856-858,3.
