Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P216 GHD mix1 probemix - 50 reactions

SALSA MLPA P216 GHD mix1 probemix - 50 reactions

application: Growth Hormone Deficiency (GHD)
region: GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P216-050R

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

Detailní popis SALSA MLPA P216 GHD mix1 probemix - 50 reactions

P216-025R SALSA MLPA P216 Growth Hormone Deficiency mix -1 probemix – 50 rxn

description
Idiopathic GH deficiency is the most common cause of GH deficiency in children. The genes most frequently involved in growth hormone deficiency are GH1, POU1F1 (previous name PIT1), PROP1, GHRHR, LHX3, LHX4 and HESX1.

The GH1 gene (5 exons) spans ~1.6 kb of genomic DNA and is located on chromosome 17q23.3, ~62.0 Mb from the p-telomere. The POU1F1 gene (6 exons) spans ~17 kb of genomic DNA and is located on chromosome 3p11.2, ~87.3 Mb from the p-telomere. The PROP1 gene (3 exons) spans ~4 kb of genomic DNA and is located on chromosome 5q35.3, ~177.4 Mb from the p-telomere. The GHRHR gene (13 exons) spans ~15.5 kb of genomic DNA and is located on chromosome 7p14.3, ~31 Mb from the p-telomere.
The LHX3 gene (7 exons) spans ~8.9 kb of genomic DNA and is located on chromosome 9q34.3, ~139 Mb from the p-telomere. The LHX4 gene (6 exons) spans ~44.8 kb of genomic DNA and is located on chromosome 1q25.2, ~180.2 Mb from the p-telomere. The HESX1 gene (4 exons) spans ~2.3 kb of genomic DNA and is located on chromosome 3p14.3, ~57.2 Mb from the p-telomere.

The P216-B1 Growth Hormone Deficiency probemix contains probes for each exon of the above mentioned genes, except for exon 2 of GH1, exon 5 of POU1F1 and except for exon 8 of GHRHR. In addition, 8 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 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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