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SALSA MLPA KIT P220 Obesity
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
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Obesity forms a fundamental basis of the metabolic syndrome that involves hyperglycemia, hypertension and hyperlipidemia. Leptin (LEP) deficiency (164160), leptin receptor (LEPR) deficiency (601007), and proopiomelanocortin (POMC) deficiency (609734), all involved in obesity can be inherited autosomal recessive. Obesity may also be caused by mutation in SIM1 (Drosophila single-minded; Holder et al. (2000)), the melanocortin-4 receptor gene (MC4R; 155541) MC3R (Tao and Segaloff (2004)) and MC2R (Emmerson PJ (2007)). Leptin (LEP; 164160) is an adipocyte-specific hormone that regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure. The gene expands 16.4kb on Chr. 7q13.3 and includes 3 exons. The kit contains one probe for exon 2 and two probes for exon 3. Leptin acts through the leptin receptor (LEPR; 601007), a single-transmembrane-domain receptor of the cytokine receptor family, which is found in many tissues in several alternatively spliced forms. LEPR comprises 20 exons, spanning about 214.8kb of genomic DNA and is located on 1p31. The kit includes probes for 10 LEPR exons. POMC (proopiomelanocortin) gene is located on chromosome 2p23.3, where it spans 7.8kb. The probemix contains one probe each of the 4 existing exons. SIM1 (Drosophila single-minded) expands 74.8 kb on Chr. 6q16.3-q21 and includes 11 exons. The kit includes 11 probes; 2 probes for exon 1 as well as for exon 9, one probe each for exon 2-5, 7, 8, 10 and 11. MC4R deficiency is the most common form of monogenic obesity (Farooqi et al. (2003)). The MC4R gene is located on chromosome 18q22, includes 1 exon, which spans 1 kb. The kit includes 2 probes for this exon. MC3R spans 1.1kb on chromosome 20q13.2-q13.3 and exists out of one exon. The kit includes 2 probes. MC2R spans 33.5 kb on chromosome and contains 2 exons. The kit includes 1 probe. More probes for obesity are available in SALSA MLPA kit P224 PPARG. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the obesity genes. 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 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 0707 (July 2007) : lot 0707
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