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SALSA MLPA KIT P014 Chromosome 8
Full mix description (pdf)
Last change in probe mix content: Lot 0108 (January 2008) Current Lot Number.: Lot 0108
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 Buffart et a. (2005). DNA copy number changes at 8q11- 24 in metastasized colorectal cancer.
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[http://www.geneclinics.org/profiles/hht/details.html]
Copy number changes of parts of human chromosome 8 are common in many types of tumours. In most cases these copy number changes are losses of copy number of 8p sequences and gains in copy number of 8q sequences. MYC: Amplification of MYC is widespread in different types of cancer. One of the many functions of MYC is the activation of telomerase by inducing expression of its catalytic subunit (TERT). PTP4A3: Also called PRL-3. This gene is often amplified in colon carcinoma metastases. CTSB: CATHEPSIN B is overexpressed in tumors of the lung, prostate, colon, breast, and stomach. EIF3S6: Eucaryotic Translation Initiation Factor 3, Subunit 6, showed loss of heterozygosity (LOH) in 28% of primary breast carcinoma DNAs. E2F5: Close to myc and is often amplified in breast tumors. Plays an important role in pocket protein mediated G1 arrest of cycling cells. FGFR1: Fibroblast Growth Factor Receptor 1; Protein tyrosine kinase. The FGFR1 region is involved in myeloproliferative disorders. MOS: Oncogen homolog. MYBL1: This MYB homolog functions as a transcriptional activator and the regulatory mechanism of gene activity is similar to that of MYB. PTK2: Focal Adhesion Kinase (pp125FAK) is often amplified in cell lines derived from invasive epithelial tumours and may play a role in invasive tumours. PRKDC: Catalytic subunit of the DNA activated protein kinase. Cells defective in this gene are unable to repair double-stranded breaks effectively and are hypersensitive to ionizing radiation. SLA: SRC-like adaptor. Negative regulator of T-cell receptor signalling. Changes in expression of SLA have been observed between different subgroups of breast cancer and DLBCL lymphomas. N33: Putative prostate cancer tumor suppressor. TRC8: Mutation candidate in malignant diseases involving the kidney and thyroid. GATA4: Haploinsufficiency of GATA4 may contribute to congenital heart disease. RECQL4: DNA helicase . Homolog of the genes that are defect in Bloom syndrome and Werner syndrome. RAD54B: Involved in the recombinational repair of DNA damage. Homozygous mutations at highly conserved positions of RAD54B have been observed in human primary lymphoma and colon cancer. The probe mix included in this MLPA kit contains 30 probes with target sequences on human chromosome 8. In addition 10 probes for other human genes located on different chromosomes are included as a control.
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