General information
The SALSA MLPA
Probemix P239 BRCA1 region is a
research use only (RUO) assay for the detection of deletions or duplications in the
BRCA1 region, which is associated with hereditary breast and ovarian cancer.
Defects in the
BRCA1 gene on human chromosome 17q21 are an important cause of hereditary breast and ovarian cancer. This SALSA MLPA Probemix P239 BRCA1 region can be used to characterise deletions/duplications that extend to the region up- and downstream of the
BRCA1 gene. For primary screening of
BRCA1, we recommend using SALSA MLPA Probemix P002 BRCA1.
BRCA1 deletions and duplications detected using SALSA MLPA Probemix P002 BRCA1 can be confirmed with SALSA MLPA probemix P087 BRCA1 Confirmation. SALSA MLPA Probemix P239 BRCA1 region is developed for research purposes to investigate the extent of
BRCA1 deletions/duplications.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1247/
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P239-C1 BRCA1 region contains 32 MLPA probes with amplification products between 130 and 400 nucleotides (nt). This includes 11 probes for the upstream region of the
BRCA1 gene, including probes for the
GRN,
NBR1 and
NBR2 genes, and the
BRCA1 pseudogene
BRCA1P1. Furthermore, five probes for the
BRCA1 gene and six probes for the downstream region of the
BRCA1 gene are included, including probes for the
G6PC1,
RND2,
STAT3 and
VAT1 genes. In addition, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.