Shu Jianbo, Lin Shuxiang, Meng Yingtao, Zhang Chunhua, Xu Haiquan, Zhang Yuqin, Huang Jingfu
Tianjin Pediatric Research Institute, Tianjin Pediatric Hospital, Tianjin 300074, P.R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):647-50. doi: 10.3760/cma.j.issn.1003-9406.2015.05.008.
OBJECTIVE To detect potential mutation in a Chinese family affected with beta-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.
目的 检测一个患β-脲基丙酸酶缺乏症的中国家系中的潜在突变。方法 从外周血样本中提取基因组DNA。通过聚合酶链反应（PCR）扩增UPB1基因的所有外显子和侧翼内含子区域，并通过直接测序进行检测。结果 在先证者中，UPB1基因第9外显子中鉴定出纯合突变c.977G>A。先证者的父母在同一位点均有杂合改变。结论 UPB1基因的c.977G>A突变是该婴儿疾病发病机制的原因。
