General information: The SALSA MLPA Probemix P237 DNAI1 is a research use only (RUO) assay for the detection of deletions or duplications in the DNAI1 gene, which is associated with primary ciliary dyskinesia (PCD).

PCD phenotype is estimated to affect 1 in 10,000 to 20,000 individuals. PCD is characterised by dysfunction of motile cilia and flagella. Recurrent respiratory infections are caused by defective mucociliary clearance due to immotile or dysmotile respiratory cilia. Mutations in several genes have been implicated in PCD, including DNAI1 in 2-10% of the cases.

More information is available at http://www.ncbi.nlm.nih.gov/books/NBK1122/.

Probemix content: The SALSA MLPA Probemix P237-B2 DNAI1 contains 30 MLPA probes with amplification products between 131 and 463 nucleotides (nt). This includes 20 probes for the DNAI1 gene, one probe for each exon of the 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.mlpa.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.mlpa.com.