Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency.
10.3760/cma.j.issn.1003-9406.2015.05.008
- Author:
Jianbo SHU
1
;
Shuxiang LIN
;
Yingtao MENG
;
Chunhua ZHANG
;
Haiquan XU
;
Yuqin ZHANG
;
Jingfu HUANG
Author Information
1. Tianjin Pediatric Research Institute, Tianjin Pediatric Hospital, Tianjin 300074, P.R. China. Email: zhangyuqin0809@sina.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
genetics;
Amidohydrolases;
deficiency;
genetics;
Brain Diseases;
genetics;
Exons;
Humans;
Infant;
Male;
Movement Disorders;
genetics;
Mutation;
Purine-Pyrimidine Metabolism, Inborn Errors;
genetics
- From:
Chinese Journal of Medical Genetics
2015;32(5):647-650
- CountryChina
- Language:Chinese
-
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.
