Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.
Genet Mol Res
; 14(3): 11480-7, 2015 Sep 25.
Article
em En
| MEDLINE
| ID: mdl-26436388
ABSTRACT
Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and identified a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by RP. This study actually confirms this novel mutation, and establishes the ARMS technique for the detection of mutations in RP.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Reação em Cadeia da Polimerase
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Primers do DNA
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Pareamento Incorreto de Bases
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Mutação de Sentido Incorreto
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Canais de Cálcio Tipo L
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article