Identification of a novel large deletion of factor subunit A mRNA associated with hereditary factor deficiency / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 299-302, 2012.
Article
Dans Chinois
| WPRIM
| ID: wpr-359502
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the expressed mRNA of the factor subunit A (FA) in monocyte in a hereditary factor (F) deficiency family.</p><p><b>METHODS</b>The F A mRNA of the proband and the other family members was analyzed by RT-PCR, semi-quantitative RT-PCR, cloning and sequencing. The three dimensional structure of the protein was predicted by SWISS-MODEL and viewed by RASMIOL.</p><p><b>RESULTS</b>(1) A large in frame deletion from codons 11 to 279, spanning from exon 2 to 7 of F A (DelCD11-279), was identified in the proband at mRNA level and a truncated protein is predicted composed of 464 amino acids. Compared with the normal and the other families, the proband showed lower level of F A mRNA in RT-PCR. (2) SWISS-MODEL analysis showed that the truncated protein lacked the β-sandwich and a part of catalytic core, resulting in loss of the normal catalytic domains.</p><p><b>CONCLUSION</b>DelCD11-279 of F A mRNA is associated with hereditary F deficiency. The reduced expressing level of F A gene is one of the causes resulting in F deficiency in the patients.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Facteur XIII
/
ARN messager
/
Analyse de mutations d'ADN
/
Exons
/
Délétion de séquence
/
Déficit en facteur XIII
/
Génétique
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Adolescent
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2012
Type:
Article
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