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SALSA MLPA KIT P238 DNAH5
[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 DNAH5 gene comprises 79 exons, spanning about 253 kb of genomic DNA. Most individuals with PCD have point mutations in the DNAH5 gene, most of which will not be detected by the MLPA technique. This P238 DNAH5 probemix contains probes for 23 of the 79 exons. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the DNAH5 gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe 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 0408 (April 2008) : lot 0408
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