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SALSA MLPA KIT P109 ABCB4
This P109 ABCB4 probemix can be used to detect copy number changes of most ABCB4 exons. ABCB4 (MDR1) encodes a large transmembrane protein that is an integral part of the blood-brain barrier and functions as a drug-transport pump transporting a variety of drugs from the brain back into the blood. The development of simultaneous resistance to multiple structurally unrelated drugs is a major impediment to cancer chemotherapy. Increased expression and amplification of ABCB4 sequences were also found in multidrug-resistant sublines of human leukemia and ovarian carcinoma cells. Also, a new syndrome referred to as Low Phospholipid Associated Cholelithiasis (LPAC) has been recentely described (Rosmorduc et al. Gastroenterology 2001; 120 : 1459-1467 and Gastroenterology 2003 ; 125 : 452-459) and it’s characterized by a symptomatic cholesterol cholelithiasis in young adults. About half of these patients had point mutations in the ABCB4 gene. In addition, in a subgroup of patients presenting with LPAC and without point mutations, our recent data suggest the presence of large rearrangements in some coding regions of this gene and maybe also in the promoter region. This MLPA kit is designed to detect deletions / duplications of 25 out of 33 ABCB4 exons. Also included are 3 probes for the ABCB1 gene located close to ABCB4. 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. The exact ligation sites of the MLPA probes are indicated in the description of this test. Apparent deletions of a single exon requires confirmation by other methods. We have no information on the percentage of defects in this gene that are caused by deletions / duplications of complete exons. Please note that most defects in this gene are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 10; 10-04-2007 Last change in probe mix content: Lot 0805 (August 2005) Current Lot Number.: Lot 0805
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 Riveiro-Alvarez R. et al. (2006). Partial paternal uniparental disomy (UPD) of chromosome 1 in one patient with Stargardt disease. Abstract ESHG 2006
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