General Information: The SALSA MLPA
Probemix P238 DNAH5 is a
research use only (RUO) assay for the detection of deletions or duplications in
DNAH5 gene, which is associated with primary ciliary dyskinesia (PCD).
PCD, also known as immotile ciliary syndrome or Kartagener Syndrome (KS), is characterized by dysfunction of motile cilia and flagella and affects about 1 in 10.000 to 20.000 individuals. Recurrent respiratory infections are caused by defective mucociliary clearance due to immotile or dysmotile respiratory cilia. Mutations in the
DNAH5 and
DNAI1 genes, on chromosomes 5p15.2 and 9p13.3 respectively, are found in 38% of PCD patients. For probes targeting exons of the
DNAI1 gene, SALSA
MLPA Probemix P237 DNAI1 can be used.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1122/.
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 P238-B2 DNAH5 contains 37 MLPA probes with amplification products between 130 and 474 nt. This includes 22 probes for 22 out of 79 exons of the
DNAH5 gene. In addition, 15 reference probes are included and detect 14 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is 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, 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.