This probemix contains 11 probes for the upstream region of BRCA1 which include probes for the NBR1 and NBR2 genes and the BRCA1 pseudogene, which are located immediately upstream of the BRCA1 promoter region. Furthermore, this probemix contains five probes for BRCA1. Six probes for the downstream region of BRCA1, including the VAT1 and RND2 genes, are also included. In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.
This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the above mentioned chromosomal BRCA1 region in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings.