Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P341 PKHD1 mix 1 probemix - 50 reactions

SALSA MLPA P341 PKHD1 mix 1 probemix - 50 reactions

SALSA MLPA P341 PKHD1 mix 1 probemix - 50 reactions

Polycystic kidney disease, autosomal recessive (ARPKD)

region:PKHD1. Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P341-050R

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

Detailní popis SALSA MLPA P341 PKHD1 mix 1 probemix - 50 reactions

P341-025R SALSA MLPA P341 PKHD1 mix 1 probemix – 50 rxn

Defects in the PKHD1 gene are the cause of all typical forms of autosomal recessive polycystic kidney disease (ARPKD). ARPKD is a hereditary and severe form of polycystic kidney disease, affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis.

The PKHD1 gene (68 exons) spans ~472 kb of genomic DNA and is located at chromosome 6p12, 51.6 Mb from p-telomere. The database of genome variants mentions one deletion of exons 45-48 in a control sample (variant 36532) (200#; see http://projects.tcag.ca/variation/).

The P341-B1 / P342-B1 PKHD1 probemixes contain probes for each of the 68 exons with the exception of exon 17 and 61; two probes are present for each of the exons 27, 35, 36, 37 and 53. In addition, 10 and 8 reference probes are included in probemix 1 and 2, respectively, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene 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 MLPA test.

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