Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 536-539, 2004.
Article
Dans Chinois
| WPRIM
| ID: wpr-291384
ABSTRACT
<p><b>OBJECTIVE</b>To identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing.</p><p><b>RESULTS</b>The mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.</p><p><b>CONCLUSION</b>The hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Anatomopathologie
/
Pedigree
/
Télangiectasie hémorragique héréditaire
/
Analyse de mutations d'ADN
/
Séquence nucléotidique
/
Antigènes CD
/
Exons
/
Mutation ponctuelle
/
Récepteurs de surface cellulaire
/
Codon non-sens
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte très âgé
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2004
Type:
Article
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