General information:
The SALSA MLPA Probemixes P141 NIPBL-1 & P142 NIPBL-2 are
research use only (RUO) assays for the detection of deletions or duplications in the
NIPBL gene, which is associated with Cornelia de Lange syndrome (CdLS).
CdLS, also known as Bachmann-de Lange syndrome, is a multiple malformation disorder with characteristic facial features, growth and cognitive retardation, and a variety of other abnormalities affecting a wide range of tissues and organs. Most cases of CdLS are sporadic. Some familial cases have been reported, suggesting autosomal dominant inheritance. The incidence is 1 per 10,000-50,000 live births with no difference based on race or sex.
Among the genes associated with CdLS is the
NIPBL gene, which is found mutated in 50-60% van CdLS cases. Other genes include the
HDAC8,
RAD21,
SMC1A, and
SMC3 genes, but no probes for these genes are included in these probemixes.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1104/.
Probemix content:
The SALSA MLPA Probemix P141-A4 NIPBL-1 contains 34 MLPA probes with amplification products between 135 and 418 nucleotides (nt). This includes 24 probes targeting 24 out of the 47 exons of the
NIPBL gene. In addition, ten reference probes are included that detect autosomal chromosomal locations. The SALSA MLPA Probemix P142-A4 NIPBL-2 contains 34 MLPA probes with amplification products between 135 and 418 nucleotides (nt). This also includes 24 probes targeting 24 out of the 47 exons of the
NIPBL gene (in total there are two probes for exon 1). 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.mlpa.com.
These probemixes each contain 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.mlpa.com.