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SALSA MLPA KIT P062 LDLR
THE LOW DENSITY LIPOPROTEIN RECEPTOR (LDLR) is a cell surface receptor that plays an important role in cholesterol homeostasis. The LDLR gene contain 18 exons and is located on chromosome 19p13.2. The binding of LDL to LDLR results in supression of cholesterol synthesis by the repression of HMG CoA reductase. Several deletions have been described in the LDLR gene in patients with familial hypercholesterolemia. This is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density protein (LDL). The probe mix included in this MLPA kit contains probes for each of the 18 LDLR exons. Two probes are present for exon 1. Also included are two probes that recognize other genes located just upstream and downstream of LDLR on chromosome 19. As a control, 16 probes for other human genes located on different chromosomes are included. In the future, each change in contents of this probemix will be reflected by a change in product number (P062B; P062C etc.).
Full mix description (pdf)
Last change in probe mix content: Lot 0606 (June 2006) Current Lot Number.: Lot 0307
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 2006-- Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. 2005 -- Detection of large deletions in the LDL receptor gene with quantitative PCR methods 2005 -- Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. 2004 -- Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
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