Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/1572
Título: Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples
Autor: Ribeiro, Diogo
Cardoso, Ana
Duarte, Ana Joana
Vieira, Luís
Amaral, Olga
Palavras-chave: Doenças Genéticas
MPS I
Hurler
Genética Humana
dHPLC
DBS
Mutation Detection
IDUA gene
Data: 3-Abr-2013
Editora: Hindawi Publishing Corporation
Citação: ISRN Molecular Biology. 2013(2013):451298.doi:10.1155/2013/451298
Resumo: Development of a simple mutation directed method in order to allow lowering the cost of mutation testing using an easily obtainable biological material. Assessment of the feasibility of such method was tested using a GC-rich amplicon. A method of denaturing high-performance liquid chromatography (dHPLC) was improved and implemented as a technique for the detection of variants in exon 9 of the IDUA gene. The optimized method was tested in 500 genomic DNA samples obtained from dried blood spots (DBS). With this dHPLC approach it was possible to detect different variants, including the common p.Trp402Ter mutation in the IDUA gene. The high GC content did not interfere with the resolution and reliability of this technique, and discrimination of G-C transversions was also achieved. This PCR-based dHPLC method proved to be a rapid, a sensitive, and an excellent option for screening numerous samples obtained from DBS. Furthermore, it resulted in the consistent detection of clearly distinguishable profiles of the common p.Trp402Ter IDUA mutation with an advantageous balance of cost and technical requirements.
Descrição: DR and AJD were FCT research grantees (PIC/IC/82822/2007)
Peer review: yes
URI: http://hdl.handle.net/10400.18/1572
ISSN: 2090-7907
Versão do Editor: http://www.hindawi.com/isrn/mb/2013/451298/
Aparece nas colecções:DGH - Artigos em revistas internacionais

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