Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P099 GCH1 TH-SGCE probemix - 50 reactions

SALSA MLPA P099 GCH1 TH-SGCE probemix - 50 reactions

application: Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome
region: TH 11p15.5, GCH114q22, SGCE 7q21 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P099-050R

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

Detailní popis SALSA MLPA P099 GCH1 TH-SGCE probemix - 50 reactions

Autosomal dominant dopa-responsive dystonia is characterised by postural and motor disturbances showing marked diurnal fluctuation (Segawa, M. et al., 1976, Adv Neurol). The disorder is caused by a mutation in the gene encoding GTP cyclohydrolase I (GCH1). The GTP cyclohydrolase I enzyme is rate-limiting in the conversion of GTP to BH4, which is a cofactor for tyrosine hydroxylase. Tyrosine hydroxylase is the rate-limiting enzyme for dopamine synthesis. The GCH1 gene has 6 exons, spans ~61 kb of genomic DNA and is located on chromosome 14q22.2, ~55 Mb from the p-telomere.

The autosomal recessive form of dopa-responsive dystonia is also known as Segawa disease (De Lonlay, P. et al., 2000, J Inherit Metab Dis). Deficiency of tyrosine hydroxylase (TH) is generally considered as a  cause of this autosomal recessive dystonia. TH is involved in the conversion of tyrosine to dopamine. As the rate-limiting enzyme in the synthesis of catecholamines, tyrosine hydroxylase has a key role in the physiology of adrenergic neurons. The TH gene is located in the Beckwith-Wiedemann syndrome (BWS) critical region (Gu, D. et al., 2002, Hum Genet) on chromosome 11p15.5. The TH gene has 14 exons and spans ~8 kb of genomic DNA, ~2 Mb from the p-telomere.

Mutations in the epsilon-sarcoglycan encoding SGCE gene cause myoclonus-dystonia syndrome. The SGCE gene has 13 exons, spans ~71 kb of genomic DNA and is located on chromosome 7q21.3, ~94 Mb from the p-telomere. Please note that exons 10 and 12 are only present in the NM_001099401.1 and NM_001099400.1 reference sequences, respectively.

Since the phenotypes of the dopa-responsive dystonia diseases are very similar, we combined probes for TH, GCH1 and SGCE exons in one MLPA probemix. This probemix contains probes for all 6 exons of the GCH1 gene, 6 out of the 14 exons of the TH gene and an additional flanking probe and all 11 SGCE exons present in NM_003919.2. For data analysis, 9  reference probes for other human genes located on different chromosomes are included.

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 height 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 height, 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 these genes are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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