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

摘要:

目的：研究1例糖原累积病Ⅰa型患者及其家系的基因突变情况。方法：应用聚合酶链反应扩增葡萄糖-6-磷酸酶基因（G6PC基因）全部5个外显子，通过DNA直接测序的方法，对糖原累积病Ⅰa型患者及其家系中父、母、姐姐的G6PC基因进行突变检测。结果：在患者G6PC基因的第5外显子上的第743碱基发生杂和突变，由G转变为A，导致G6Pase蛋白第222位氨基酸由甘氨酸变为精氨酸（G222R），家系中父亲、姐姐均未发现该突变，而母亲携带与患者相同突变。结论：首次在国内报道G6PC基因的G222R突变，丰富了糖原累积病Ⅰa型在中国人群的突变谱。

Abstract:

OBJECTIVE: To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa. 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 743G>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 Ⅰa in mainland China.