SALSA MLPA P226 SDHD probemix - 50 reactions

application: Paragangliomas (PGL)
region: SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P226-050R

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

Detailní popis SALSA MLPA P226 SDHD probemix - 50 reactions

P226-025R SALSA MLPA P226 SDH probemix – 50 rxn

Hereditary paraganglioma-pheochromocytoma is a condition characterised by the growth of noncancerous (benign) tumours in structures called paraganglia, affecting approximately 1 in 1 million people. Mutations in the SDHD gene predispose to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predispose to type 3; and mutations in the SDHB gene predispose to type 4. Mutations in the SDHAF1 gene are a cause of SDH defective infantile leukoencephalopathy.

The SDHB gene (8 exons) spans ~36 kb of genomic DNA and is located on chromosome 1p36.1. The SDHC gene (6 exons) spans ~50 kb of genomic DNA and is located on chromosome 1q23.3. The SDHD gene (4 exons), spans ~9 kb of genomic DNA and is located on chromosome 11q23.1. The SDHAF1 gene (1 exon) spans ~1.1 kb on chromosome 19q13.12 and the SDHAF2 gene (4 exons) spans ~17 kb on chromosome 11q12.2.

This P226-C1 SDH probemix contains probes for all exons of the SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 genes. Also, 12 reference probes are included in this probemix, detecting 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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