一个β-脲基丙酸酶缺陷症家系UPB1基因突变分析  

Analysis of UPBI gene mutation in a family affected with β-ureidopropinoase deficiency

作　　者：舒剑波[1] 林书祥[1] 孟英韬[1] 张春花 许海泉[3] 张玉琴[3] 黄敬孚[1] 

机构地区：[1]天津市儿童医院、天津市儿科研究所,300074 [2]MILS International, Kanazawa, Ishikawa 912-8105, Japan [3]天津市儿童医院神经内科

出　　处：《中华医学遗传学杂志》2015年第5期647-650,共4页Chinese Journal of Medical Genetics

摘　　要：目的对1个β-脲基丙酸酶缺陷症家系进行UPB1基因突变分析，为疾病的诊断及遗传咨询提供依据。方法收集先证者及其父母外周血，提取基因组DNA，应用PCR扩增产物直接测序法对致病基因UPB1的所有外显子序列及其两侧内含子区域进行突变分析。结果在先证者的UPB1基因第9外显子存在C．977G〉A纯合错义突变，使第326位密码子CGG突变为CAG，使精氨酸替换为谷氨酰胺，即P．R326Q，父母该位点均存在杂合突变。结论UPB1基因第9外显子C．977G〉A纯合错义突变可能是该先证者发生β-脲基丙酸酶缺陷症的原因。Objective To detect potential mutation in a Chinese family affected with β- ureidopropinoase deficiency. Methods Genomic DNA was extracted from peripheral Blood samples. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. Results A homozygous mutation c. 977G〉A was identified in exon 9 of the UPB1 gene in the proband. Both parents of the proband had heterozygous change of the same site. Conclusion The c. 977G〉 A mutation of the UPB1 gene is responsible for the pathogenesis of the disease in the infant.

关 键 词：β-脲基丙酸酶缺陷症 UPB1基因 突变 嘧啶 

分 类 号：R733.72[医药卫生—肿瘤]