A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
复制标题
糖原脱支酶基因中的一个新的供体剪接位点突变与 III 型糖原累积病有关。
DOI：
10.1006/bbrc.1996.1055
复制
发表时间：
1996
影响因子：
3.1
通讯作者：
T. Murase
中科院分区：
文献类型：
--
作者：
M. Okubo;Y. Aoyama;T. Murase
Abstract Analysis of glycogen debranching enzyme (debrancher) cDNA from a patient with glycogen storage disease type III revealed a deletion of 124 base pairs. A donor splice site mutation (IVS G +1 to T) was identified in the patient's debrancher gene, which caused exon skipping of the upstream exon and resulted in a truncated enzyme due to premature termination. Mutational analysis of the patient's family showed that this point mutation was inherited from the father. Southern blot analysis of the patient's genomic DNA showed an additional, unique Eco RI fragment of 5.8 kb, which was inherited from the mother. These results suggested that the patient was a compound heterozygote for the donor splice site mutation, which is the first identified in the debrancher gene, and had a genetic defect relating to an aberrant 5.8-kb Eco RI fragment.
