Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.
Clin Biochem
; 43(7-8): 700-4, 2010 May.
Article
em En
| MEDLINE
| ID: mdl-20153743
ABSTRACT
BACKGROUND:
Lack of sequencing validation and complexity of deletion testing hinder genetic diagnosis of SDH-associated paraganglioma/pheochromocytoma.METHODS:
We developed sequencing assays and multiplex ligation-dependent probe amplification (MLPA) deletion detection for SDHB, SDHC and SDHD. Clinical performance was validated on 141 blinded samples, previously tested at NIH.RESULTS:
Sequencing and deletion detection were highly reproducible and agreed with previous NIH results in 99.3% and 100%, respectively.CONCLUSIONS:
DNA sequencing combined with MLPA allows reliable and simplified genotyping of SDHB, SDHC and SDHD.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Succinato Desidrogenase
/
Análise Mutacional de DNA
/
Proteínas de Membrana
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Revista:
Clin Biochem
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Estados Unidos