一个β-脲基丙酸酶缺陷症家系UPB1基因突变分析

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.