General information
The SALSA MLPA Probemix P240 BRIP1/CHEK1 is a research use only (RUO) assay for the detection of deletions or duplications in the BRIP1 and CHEK1 genes, which are associated with hereditary predisposition to cancer.

The BRIP1 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.

CHEK1 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).

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 P240-A5 BRIP1/CHEK1 contains 44 MLPA probes with amplification products between 130 and 490 nucleotides (nt). This includes 13 probes for the CHEK1 gene and 20 probes for the BRIP1 gene. In addition, eleven 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.