一种新的鸟氨酸氨基甲酰转移酶基因突变E122G的鉴定

Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene

目的 测定 1个迟发型鸟氨酸氨基甲酰转移酶 (ornithine transcarbamylase,OTC)缺乏症的中国汉族家系的基因突变及患者 OTC基因外显子序列。方法 用聚合酶链反应 -单链构象多态性结合PCR产物直接测序 ,鉴定其突变类型。结果 在该家系患者 OTC基因中确认了 1个新的错义突变E12 2 G,位于第 4外显子的保守残基 (GAA→ GGA)。结论 OTC基因中 E12 2 G突变引起迟发型 OTC缺乏症 ,是

Objective: To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient. Methods: Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type. Results: A missense mutation E122G in the conserved residue of exon 4 was identified, which is unreported before. Conclusion: The E122G mutation in human OTC gene may cause late onset OTC deficiency.