Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P139 Defensin probemix - 25 reactions

SALSA MLPA P139 Defensin probemix - 25 reactions

application: Defensin
region: DEF, 8q22, 8q23, Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Skladem
Kód produktu P139-025R

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

Detailní popis SALSA MLPA P139 Defensin probemix - 25 reactions

P139-025R SALSA MLPA P139 Defensin probemix – 25 rxn

Defensin constitutes a primary mechanism in the innate immune system of humans and all other mammals. The gastrointestinal tract is constantly exposed to microorganisms, especially to a large and complex population of bacteria resident in the colon and distal small intestine. Epithelial cells lining the gastrointestinal tract play a critical role in mediating a protective innate immune response. Currently, there is a  growing appreciation of the importance of antimicrobial peptides of the defensin family expressed by these cells.

Defensins are short, processed peptide molecules that are classified into three different structural groups: alpha-defensins, beta-defensins and theta-defensins. Much interest has been focused on the genetic variation in defensin loci present in the human population, as this may be a key in understanding individual differences in disease susceptibility and severity. The defensin genes are located on 8p23-p22. Also of interest is the SPAG11B gene, which is located about ~17 kb upstream from the defensin genes. SPAG11B encodes for proteins with an antibacterial activity which affect sperm maturation. The SPAG11B gene (8 exons and 2 promoters) spans ~19 kb (including ~3 kb of proximal promoter region) of genomic DNA and is located on 8p23.1, 8 Mb from the p-telomere. It is thought that SPAG11B is derived from ancestral beta-defensin genes.

The P139-B2 probemix contains 15 MLPA probes specific for 10 different defensin genes, as well as 2 probes specific for SPAG11B. In addition, 13 probes for other 8p sequences are present. For reference 10 probes specific for genes located on other chromosomes are included. A complete list of all MLPA probes can be found in table 1, whereas in table 2, the recognition sequence of each defensin-specific MLPA probe and their distance on genomic DNA can be found. Note that several genes in this mix (DEFB4, DEFB103A, SPAG11B, DEFB104A, DEFB106A, DEFB105A) seem to be duplicated in most individuals.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height 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 height, 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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