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SALSA MLPA KIT P237 DNAI1
[http://www.geneclinics.org/profiles/hht/details.html]
Primary ciliary dyskinesia (PCD) phenotype is estimated to affect 1 in 10,000 to 20,000 individuals. PCD is characterized by dysfunction of motile cilia and flagella. Recurrent respiratory infections are caused by defective mucociliary clearence due to immotile or dysmotile resporatory cilia. Mutations in the DNAH5 and DNAI1 genes, on chromosomes 5p and 9p respectively, are found in 38% of PCD patients (Hornef et al., 2006; Zariwala et al., 2007). The DNAI1 gene contains 20 exons, spanning 62,2kb of genomic DNA. Most individuals with PCD have point mutations in the DNAI1 gene, which will not be detected by the MLPA technique. This P237-A1 probemix contains probes for each of the 20 exons. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the DNAI1 gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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Last change in probemix content Current lot number
: lot 0708 (July 2008) : lot 0708
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