SALSA MLPA P334 Gonadal probemix - 50 reactions

application: Gonadal Development Disorder
region: DMRT1, CYP17A1, SRD5A2, HSD17B3 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P334-050R

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

Detailní popis SALSA MLPA P334 Gonadal probemix - 50 reactions

P334-025R SALSA MLPA P334 Gonadal probemix – 50 rxn

description
The development and function of mammalian gonad is influenced by several pathways. In the current SALSA MLPA P334 probemix, four genes (DMRT1, CYP17A1, SRD5A2 and HSD17B3) have been included which are all known to have an effect on gonadogenesis. The effects of mutations or loss of function of these genes range from pseudohermaphroditism, synthesis of androgens and estrogens to gonadal dysgenesis.

The DMRT1 gene (5 exons), spans ~ 127 kb of genomic DNA and is located on chromosome 9p24, 0.8 Mb from the p-telomere. The P334-A2 probemix contains two probes for each exon of the gene.

The CYP17A1 gene (8 exons), spans ~ 7 kb of genomic DNA and is located on chromosome 10q24, 104 Mb from p-telomere. The P334-A2 probemix contains one probe for each exon of the gene with the exception of exon 8.

The SRD5A2 gene (5 exons), spans ~ 56 kb of genomic DNA and is located on chromosome 2p23, 32 Mb from p-telomere. The P334-A2 probemix contains one probe for each exon of the gene and two probes for exon 1 and 4.

The HSD17B3 gene (11 exons), spans ~ 67 kb of genomic DNA and is located on chromosome 9q22, 98 Mb from the p-telomere. The P334-A2 probemix contains one probe for exon 1, 3 and 11 of the gene.

The Database of Genomic Variants mentions several copy number changes that might extend into DMRT1 gene and one copy number change of SRD5A2 in healthy individuals (see http://projects.tcag.ca/variation/).

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 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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