基础医学与临床2011，Vol.31Issue(5)：529-533,5.
糖原累积病I b型1例的临床和分子遗传分析
Clinical and molecular genetic analysis for a patient with glycogen storage disease I b
摘要
Abstract
Objective To analyze the clinical and molecular genetic characteristics of a patient with glycogen storage disease I b (GSD I b). Methods Genomic DNA was extracted from peripheral leukocytes. All nine exons and the exon-intron boundaries of the SLC37A4 gene were amplified by PCR. The mutations were identified by bidirectional sequencing of the PCR products. Results The patient was diagnosed as GSD I b according to the clinical presentations and laboratory examinations, SLC37A4 gene mutation was identified as a homozygous C ＞ T transition at nucleotide position 527 of the cDNA. The missense mutation is located in exon 3, cedon 191, changing proline to leucine, which changes the conformation of the glucose-6-phosphate translocase (G6PT). Conclusion Through SLC37A4 gene mutation analysis, the clinical diagnosis of GSD I b was confirmed. The alternation of G6PT structure caused by SLC37A4 gene mutation is molecular mechanism to explain clinical manifestation of the patient. To our knowledge, this is the first report of P191L as a cause of GSD1b in Han China mainland and the result suggested that GSD I b may be diagnosed based on genomic mutation.关键词
糖原累积病I b型/葡萄糖-6-磷酸酶转位酶/SLC37A4基因/基因突变Key words
glycogen storage disease I b/ glucose-6-phosphate translocase/ SLC37A4/ gene mutation分类
医药卫生引用本文复制引用
孙晓方,陈适,卢琳,邱正庆,肖新华..糖原累积病I b型1例的临床和分子遗传分析[J].基础医学与临床,2011,31(5):529-533,5.基金项目
北京市自然科学基金(7092085) （7092085）
