The SALSA MLPA
Probemix P240 BRIP1-CHEK1 is a research use only (RUO)
assay for the detection of deletions or duplications in the BRIP1
genes, which are associated with hereditary predisposition to cancer.
gene may be a target of germline cancer-inducing mutations and has been shown to be mutated in FA-J (FANCJ) cells (Levran et al. 2005). The protein encoded by the BRIP1
gene is a member of the RecQ DEAH helicase family that interacts with the BRCT repeats of breast cancer type 1 susceptibility protein (BRCA1
). The bound complex is important in normal double-strand break repair function of BRCA1
plays an essential role in the mammalian DNA damage checkpoint (G2
/M DNA damage checkpoint), embryonic development, tumour suppression and is regulated by the ATR
gene (Liu et al. 2000).
The SALSA MLPA Probemix P240-A4 BRIP1-CHEK1 contains 44 MLPA probes with amplification products between 130 and 490 nt. This includes 20 probes for the BRIP1
gene and 13 probes for the CHEK1
gene. In addition, eleven reference probes are included that detect eleven different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com
This probemix contains nine quality control fragments generating amplification products between 64 and 121 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.mlpa.com