General information
The SALSA MLPA Probemix P431 FOXF1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
FOXF1 gene, the 16q24.1 chromosomal region, and the
MYCN gene, which are associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV) and Feingold syndrome (FS) respectively.
ACD/MPV is a rare, neonatal and lethal development disorder of the lungs. In patients with ACD/MPV, Stankiewicz et al. identified four different heterozygous mutations in the candidate
FOXF1 gene and overlapping micro-deletions encompassing the FOX transcription factor gene cluster on chromosome 16q24.1. (Stankiewicz P et al. 2009, Am J Hum Genet. 84:780-91). In addition, deletions in either a shared deletion region (SDR) of 75 kb, located 257 kb upstream of
FOXF1, and a 0.8 kb deletion within the 1.4 kb intron 1 of
FOXF1 have been found (Szafranski P et al. 2013, Genome Res. 23:23-33; Szafranski P et al. 2013, Hum Mut. 11:1467-71).
FS is a rare autosomal dominant inherited condition that is characterised by microcephaly, limb malformations, esophageal atresia, and other malformations. Defects (haploinsufficiency, mutations, (micro)deletions) in the
MYCN proto-oncogene on chromosome 2p24.3 is the main cause of FS. The
MYCN gene is a member of the MYC family and encodes the transcriptional regulator N-myc regulating many target genes involved in the cell cycle.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK7050/.
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 P431-B1 FOXF1 contains 38 MLPA probes with amplification products between 130 and 454 nucleotides (nt). This includes 25 probes for the
FOX gene cluster region: ten probes for the shared deletion region (SDR), which includes four probes for the regulatory fragment 1a (RF1a), two probes upstream of
FOXF1 gene, two probes for exon 1 and 2, four probes for intron 1 of the
FOXF1 gene, two probes for exon 1 of the
FOXC2 gene, and three probes for exon 1 of the
FOXL1 gene.
Furthermore, this probemix includes five probes for the
MYCN gene, two probes for exon 1 and 3 and one probe for exon 2. In addition, eight 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.