Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 647-650, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-288017
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Purine-Pyrimidine Metabolism, Inborn Errors
/
Abnormalities, Multiple
/
Brain Diseases
/
Exons
/
Amidohydrolases
/
Genetics
/
Movement Disorders
/
Mutation
Limits:
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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