Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P220 Obesity probemix - 100 reactions

SALSA MLPA P220 Obesity probemix - 100 reactions

application: Obesity
region: LEPR, POMC, LEP, SIM1, MC3R, MC4R Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P220-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P220 Obesity probemix - 100 reactions

P220-025R SALSA MLPA P220 Obesity probemix – 100 rxn

description
Obesity is known to have a genetic basis and is often accompanied by hyperglycemia, hypertension and hyperlipidemia. Leptin deficiency, leptin receptor deficiency and proopiomelanocortin deficiency, all involved in obesity can be inherited in autosomal recessive fashion. Obesity can also be caused by mutations in single-minded homolog 1; SIM1 (Holder et al. 2000), the melanocortin-4 receptor gene (MC4R) (Emmerson et al. 2007), MC3R (Tao and Segaloff 2004) and MC2R. Deletions of chromosome 16p11.2 are also found to be associated with obesity (Bochukova et al. 2010).

Leptin is an adipocyte-specific hormone which plays a major role in the regulation of body weight. The Leptin (LEP) gene (3 exons) spans ~16.4 kb of genomic DNA and is located on chromosome 7q31.3, 127.9 Mb from the p-telomere. Leptin acts through the leptin receptor (LEPR), a single-transmembrane-domain receptor of the cytokine receptor family, which is found in many tissues in several alternatively spliced forms. LEPR (20 exons) spans ~214.8 kb of genomic DNA and is located on 1p31, 65.9 Mb from the p-telomere. This P220 Obesity probemix contains one probe for exon 2 and two probes for exon 3 of the LEP gene and 11 probes for the LEPR gene.

The POMC gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. The proopiomelanocortin (POMC) gene (4 exons) spans ~7.8 kb of genomic DNA and is located on chromosome 2p23.3, 25.4 Mb from the p-telomere. This P220 probemix contains one probe for each of its 4 exons.

MC4R deficiency is the most common form of monogenic obesity (Faroogi et al. 2003). The MC4R gene (1 exon) spans ~1.4 kb of genomic DNA and is located on chromosome 18q22, ~58.0 Mb from the p-telomere. MC3R (1 exon) spans ~1.1 kb of genomic DNA and is located on chromosome 20q13.2-q13.3, 54.8 Mb from the p-telomere. MC2R (2 exons) spans ~33.5 kb of genomic DNA and is located on chromosome 18p11.2, 13.8 Mb from the p-telomere. SIM1 (Single-minded gene homolog 1 (Drosophila), 11 exons) spans ~74.8 kb of genomic DNA and is located on chromosome 6q16.3-q21, 100.8 Mb from the p-telomere. This P220 probemix contains 2 probes for each exon of MC4R and MC3R. In addition, it contains 1 probe for MC2R and 8 probes for SIM1; 2 probes for exon 1 and one probe each for exon 2, and 7 to 11.

The 16p11.2 region harbours SH2B1, involved in leptin and insulin signaling. Besides from SH2B1, the whole 16p11.2 region is associated with obesity. SH2B1 spans ~11 kb of genomic DNA (10 exons), 28.9 Mb from the p-telomere. This P220 probemix contains 3 probes for exon 2, 4 and 10 of SH2B1 and one additional probe in the 16p11.2 region.

In addition, 9 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.
 

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