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
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Argininosuccinate synthase
/
Conformation des protéines
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Modèles moléculaires
/
Chimie
/
Alignement de séquences
/
Séquence d'acides aminés
/
Analyse de séquence d'ADN
/
Substitution d'acide aminé
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2011
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS