Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P319 Thyroid probemix - 100 reactions

SALSA MLPA P319 Thyroid probemix - 100 reactions

Thyroid dysgenesis

region: TPO, PAX8, FOXE1, NKX2-1, TSHR Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P319-100R

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

Detailní popis SALSA MLPA P319 Thyroid probemix - 100 reactions

P319-025R SALSA MLPA P319 Thyroid probemix – 100 rxn

description
Thyroid dysgenesis is a common type of childhood hypothyroidism. It is a result of an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors. Defects in the TPO, PAX8, FOXE1, NKX2-1 and TSHR genes are the main genetic cause of this disease.

The TPO gene (17 exons) spans ~129 kb of genomic DNA and is located on 2p25, 1,5 Mb from the p-telomere. This probemix contains one probe for each exon of the TPO gene (two probes for exon 8) with the exception of exon 2 and 3.
The PAX8 gene (12 exons) spans ~63 kb of genomic DNA and is located on 2q12, 114 Mb from the p-telomere. This probemix contains one probe for each exon of the PAX8 gene (two probes for exon 1) with the exception of exon 3, 6 and 8.
The FOXE1 gene (1 exon) spans ~4 kb of genomic DNA and is located on 9q22, 101 Mb from the p-telomere. This probemix contains two probes for exon 1.
The NKX2-1 gene (3 exons) spans ~3 kb of genomic DNA and is located on 14q13, 37 Mb from the p-telomere. This probemix contains one probe for each exon of the NKX2-1 gene.
The TSHR gene (10 exons) spans ~191 kb of genomic DNA and is located on 14q31, 81,5 Mb from the p-telomere. This probemix contains one probe for each exon of the TSHR gene and two probes for exon 10.

The database of genomic variants mentions one or more in copy number changes in TPO, NKX2-1, and TSHR that have been found in healthy individuals (see http://projects.tcag.ca/variation/).

This probemix furthermore contains 9 reference probes, detecting 9 different autosomal chromosomal locations.

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. Finally, note that most defects in these genes are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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