Data/hora: 10/06/2024 14:03:12

Provedor de dados: | Genetics and Molecular Biology
País: | Brazil
Título: | Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses
Autores: | Herman,Sandra; Varga,Dominic; Deissler,Heidrun L.; Kreienberg,Rolf; Deissler,Helmut.
Data: | 2012-01-01
Ano: | 2012
Palavras-chave: | Mutation analysis; DNA sequencing; PCR; Hereditary breast cancer; Model calculations.
Resumo: | 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100007
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572012005000001
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.35 n.1 2012
Fonte: | info:eu-repo/semantics/openAccess