title: [Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].
abstract: 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.
authors.affiliation: Tianjin Pediatric Research Institute, Tianjin Pediatric Hospital, Tianjin 300074, P.R. China. Email: zhangyuqin0809@sina.com.
authors.forename: Jianbo
authors.initials: J
authors.lastname: Shu
authors.forename: Shuxiang
authors.initials: S
authors.lastname: Lin
authors.forename: Yingtao
authors.initials: Y
authors.lastname: Meng
authors.forename: Chunhua
authors.initials: C
authors.lastname: Zhang
authors.forename: Haiquan
authors.initials: H
authors.lastname: Xu
authors.forename: Yuqin
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jingfu
authors.initials: J
authors.lastname: Huang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D001927:Brain Diseases / Q000235:genetics*; D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D009069:Movement Disorders / Q000235:genetics*; D009154:Mutation; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*
chemical_list: D000581:Amidohydrolases; C021590:beta-ureidopropionase