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SALSA MLPA KIT P041/P042 ATM (old P123 ATM)
Please note that the name of SALSA MLPA kit P123 ATM has been changed in SALSA MLPA kit P041 ATM-1. SALSA MLPA kit P042 ATM-2 containing probes for the missing exons of the ATM gene. ATAXIA-TELANGIECTASIA (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et. al, Cytogenet. Cell Genet. 49: 259-263; 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al, Am. J. Hum. Genet. 47: 860-866 1990) and are associated with mutations in the ATM gene. The ATM protein is a member of the phosphatidylinositol-3 kinase family of proteins that respond to DNA damage by phosphorylating key substrates involved in DNA repair and/or cell cycle control. The ATM gene spans 143 Kb on chromosome 11q and contains 63 exons. The previous P123 ATM probemix has been renamed P041 ATM-1. P041 contains probes for 33 of the 65 exons of the ATM gene, as well as control probes for sequences located in other genes. Three probes are present for ATM exon 1. The new P042 ATM-2 probemix contains probes for the remaining ATM exons. SALSA MLPA kit P041 and P042 ATM are designed to detect deletions/duplications of one or more exons of the ATM 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 this genes is caused by deletions/duplications of complete exons. Please note that most defects in this genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
Last change in probe mix content: P041: lot 0508; P042 lot 0508 Current Lot Number.: P041: lot 0508; P042 lot 0508
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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