General information
The SALSA MLPA
Probemix P368 DCLRE1C is a
research use only (RUO) assay for the detection of deletions or duplications in the
DCLRE1C,
MEIG1, and
DCLRE1CP1 genes, which are associated with radiosensitive Severe Combined Immunodeficiency (SCID) or radiosensitive Omenn syndrome.
The nuclease ARTEMIS (encoded by
DCLRE1C, DNA crosslink repair 1C) is an essential factor in the process of V(D)J recombination and an important component of the nonhomologous end joining (NHEJ) DNA double-strand break (DSB) repair pathway. Patients with mutations in the
DCLRE1C gene suffer from radiosensitive Severe Combined Immunodeficiency (SCID) or radiosensitive Omenn syndrome.
Pannicke et al. (2010) found that by far the most frequent mutations (59%) were gross deletions of exons 1-3 or 1-4, due to homologous recombination of the wild-type
DCLRE1C gene with the
DCLRE1CP1 gene, located 62.5 kilobases (kb) upstream of
DCLRE1C.
MEIG1 located between the gene and pseudogene is lost by these gross deletions.
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 P368-B1 DCLRE1C contains 33 MLPA probes with amplification products between 136 and 420 nucleotides (nt). This includes 18 probes for the
DCLRE1C gene, one probe for each exon of the gene and two probes for exon 1 and exon 14, and five probes for the 10p13 region upstream of
DCLRE1C, comprising three probes for
MEIG1 and two probes for the
DCLRE1CP1 gene. 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.