Early genetic diagnosis in patients with HHT induced severe nosebleed / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
; (24): 241-245, 2013.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-749548
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To study the early gene diagnosis of hereditary hemorrhagic telangiectasia (HHT) induced severe nosebleed.@*METHOD@#Clinical features of 23 family members in two HHT pedigrees were examined. Genomic DNA was extracted from peripheral blood samples. PCR amplification was conducted to screen ENG and ACVRL-1 genes with their specific primers. Direct sequencing was performed to detect the mutation. Mutation analysis was carried out to evaluate its significance.@*RESULT@#A heterozygous c. 263A > G mutation was identified in exon 3 of ACVRL-1 in 6 out of 11 members in NMG-1 pedigree. In GD-2 pedigree, 5 of 11 members carried c. 199C > G mutation. Mutation detection rate was 100% in subjects with nosebleed history and 25% in family members without epistaxis.@*CONCLUSION@#Gene diagnosis characterized by high sensitivity and specificity is of great practi-cal significance and early genetic screening should be a clinical routine test for HHT induced severe nosebleed.
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
/
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
Problema de saúde:
Meta 3.4: Reduzir as mortes prematuras devido doenças não transmissíveis
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Doença Cardiovascular
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Anomalias Congênitas e Cromossômicas
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Outras Doenças Respiratórias
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Telangiectasia Hemorrágica Hereditária
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Análise Mutacional de DNA
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Antígenos CD
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Epistaxe
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Testes Genéticos
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Éxons
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Receptores de Superfície Celular
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Receptores de Activinas Tipo II
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Diagnóstico
Tipo de estudo:
Estudo diagnóstico
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Estudo prognóstico
Limite:
Adolescente
/
Adulto
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Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Ano de publicação:
2013
Tipo de documento:
Artigo