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
en Zh
| WPRIM
| ID: wpr-291384
Biblioteca responsable:
WPRO
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>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Patología
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Linaje
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Telangiectasia Hemorrágica Hereditaria
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Análisis Mutacional de ADN
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Secuencia de Bases
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Antígenos CD
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Exones
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Mutación Puntual
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Receptores de Superficie Celular
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Codón sin Sentido
Tipo de estudio:
Prognostic_studies
Límite:
Aged
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Hematology
Año:
2004
Tipo del documento:
Article