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P099 GCH1-TH-SGCE-PRRT2

SALSA® MLPA® Probemix P099 GCH1-TH-SGCE-PRRT2 detects copy number variations in the GCH1, TH, SGCE and PRRT2 genes.

Specifications

Contents: 39 MLPA probes, including 7 for GCH1, 6 for TH, 13 for SGCE and 5 for PRRT2.

Tissue: human genomic DNA.

Application: research on autosomal dominant and recessive dopa-responsive dystonia (DRD), myoclonus-dystonia syndrome, and paroxysmal movement disorders.

For research use only (RUO). Not for use in diagnostics.

General information

The SALSA MLPA Probemix P099 GCH1-TH-SGCE-PRRT2 is a research use only (RUO) assay for the detection of deletions or duplications in the GCH1, TH, SGCE and PRRT2 genes, which are associated with autosomal dominant dopa-responsive dystonia, autosomal recessive dopa-responsive dystonia, myoclonus-dystonia syndrome and paroxysmal movement disorders, respectively.

Autosomal dominant dopa-responsive dystonia (also known as autosomal dominant Segawa syndrome or GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia; OMIM #128230) is characterised by postural and motor disturbances showing marked diurnal fluctuation (Segawa et al. 1976). The disorder is caused by a mutation in the GCH1 gene encoding GTP cyclohydrolase I. The GTP cyclohydrolase I enzyme is rate-limiting in the conversion of GTP to BH4, which is a cofactor for tyrosine hydroxylase (TH). TH 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. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1508/.

The autosomal recessive form of dopa-responsive dystonia (also known as autosomal recessive Segawa syndrome or Tyrosine hydroxylase deficiency; OMIM #605407) is commonly caused by deficiency of TH (De Lonlay et al. 2000). 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 et al. 2002) on chromosome 11p15.5. The TH gene has 14 exons and spans ~8 kb of genomic DNA, ~2 Mb from the p-telomere. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1437/.

Myoclonus-dystonia syndrome (OMIM #159900) is caused by mutations in the SGCE gene encoding epsilon-sarcoglycan. The SGCE gene has 11 exons, spans ~71 kb of genomic DNA and is located on chromosome 7q21.3, ~94 Mb from the p-telomere. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1414/.

Several paroxysmal movement disorders have been associated with the PRRT2 gene. In addition to these PRRT2-associated paroxysmal movement disorders, the gene has also been linked to other movement disorders and seizures. The PRRT2 gene has 4 exons, spans ~4 kb of genomic DNA and is located on chromosome 16p11.2, ~29 MB from the p-telomere. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK475803/.

Regulatory status

SALSA MLPA Probemix P099 GCH1-TH-SGCE-PRRT2 is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
P099-025R
SALSA MLPA Probemix P099 GCH1-TH-SGCE-PRRT2 – 25 rxn
€ 286.00
P099-050R
SALSA MLPA Probemix P099 GCH1-TH-SGCE-PRRT2 – 50 rxn
€ 560.00
P099-100R
SALSA MLPA Probemix P099 GCH1-TH-SGCE-PRRT2 – 100 rxn
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below have been tested with the current (D1) version of this product and have been shown to produce useful results.

Publications

Selected publications using P099 GCH1-TH-SGCE-PRRT2

  • Ceravolo R et al. (2013). Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one? Neurology. 81:301-2.
  • Grünewald A et al. (2008). Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat. 29:331-2.
  • Huang CL et al. (2010). Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome. Parkinsonism Relat Disord. 16:585-9.
  • Shi WT et al. (2015). Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene. Genet Mol Res. 14:11185-90.
  • Steinberger D et al. (2007). Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia. Neurogenetics. 8:51-5.

References

  • De Lonlay P et al. (2000). Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. J Inherit Metab Dis. 23:819-25.
  • Gu D et al. (2002). Evidence of multiple causal sites affecting weight in the IGF2-INS-TH region of human chromosome 11. Hum Genet. 110:173-81.
  • Segawa M et al. (1976). Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol. 14:215-33.

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