ASS1 mutation leading to citrullinemia I in a Chinese Han family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 630-633, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-295566
ABSTRACT
<p><b>OBJECTIVE</b>To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.</p><p><b>METHODS</b>Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation.</p><p><b>CONCLUSION</b>A missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Argininosuccinate Synthase
/
Protein Conformation
/
Molecular Sequence Data
/
Base Sequence
/
Models, Molecular
/
Chemistry
/
Sequence Alignment
/
Amino Acid Sequence
/
Sequence Analysis, DNA
/
Amino Acid Substitution
Type of study:
Prognostic study
Limits:
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article
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