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SALSA MLPA KIT P210 BTK
[http://www.geneclinics.org/profiles/hht/details.html]
AGAMMAGLOBULINEMIA is a X-linked immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. Defects in the Bruton tyrosine kinase (BTK) gene on chromosome X cause agammaglobulinemia. The protein encoded by this gene is tyrosine-protein kinase BTK. The BTK gene comprises 19 exons, spanning about 37 kb of genomic DNA. Most individuals with agammaglobulinemia have point mutations in the BTK gene, most of which will not be detected by the MLPA technique. Deletions of several exons of the BTK gene have also been described, however. This P210 BTK probe mix contains probes for each of the 19 exons. In addition, it contains several probes in the Xq22 region, including probes for genes located very close to BTK: HNRPH2, GLA and RPL36A. This MLPA kit is designed to detect deletions/duplications of one or more exons of the BTK gene. Deletions of probe recognition sequences in males will be apparent by the absence of the probe amplification product. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected. 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.
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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 0906 (September 2006) : lot 0906
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