Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses
Genet. mol. biol
; Genet. mol. biol;35(1): 53-56, 2012. ilus, graf
Article
em En
| LILACS
| ID: lil-617005
Biblioteca responsável:
BR1.1
ABSTRACT
We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deletion. Because this alteration was only detected serendipitously with an MLPA probe, we calculated the probabilities of detecting medium-sized deletions in large exons by methods including initial PCR amplification. This showed that a considerable fraction of medium-sized deletions are undetectable by currently used standard methods of mutation analyses. We conclude that long, widely overlapping amplicons should be used to minimize the risk of missing medium-sized deletions. Alternatively, large exons could be completely covered by narrow-spaced MLPA probes.
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Texto completo:
1
Índice:
LILACS
Assunto principal:
Análise Mutacional de DNA
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Reação em Cadeia da Polimerase
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Análise de Sequência de DNA
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Síndrome Hereditária de Câncer de Mama e Ovário
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
Genet. mol. biol
/
Genet. mol. biol. (Online)
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Genetics and molecular biology (Impresso)
Assunto da revista:
GENETICA
Ano de publicação:
2012
Tipo de documento:
Article