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P089 TK2

SALSA MLPA Probemix P089 TK2 detects copy number variations in the MPV17, DGUOK, SUCLG1, RRM2B, SUCLA2 and TK2 genes associated with mitochondrial DNA depletion syndromes.

Specifications

Contents: 49 MLPA probes, including 8 probes for MPV17, 4 probes each for DGUOK and SUCLG1, 9 probes for RRM2B, 5 probes for SUCLA2 and 10 probes for TK2.

Tissue: human genomic DNA.

Application: research on mitochondrial DNA (mtDNA) depletion syndromes.

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

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Key related products

P010 POLG

Contains probes for the POLG, C10orf2 (PEO1), SLC25A4 and POLG2 genes.

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General information

The SALSA MLPA Probemix P089 TK2 is a research use only (RUO) assay for the detection of deletions or duplications in MPV17, DGUOK, SUCLG1, RRM2B, SUCLA2 and TK2 genes, which are associated with Mitochondrial DNA depletion syndromes.

Mitochondrial DNA (mtDNA) depletion syndromes are a clinically and genetically heterogeneous group of autosomal recessive disorders, characterized by a severe reduction in mtDNA content, which leads to decreased energy production in the affected tissues (El-Hattab and Scaglia 2013). The myopathic form, mtDNA depletion syndrome-2 (MTDPS2; OMIM # 609560) is associated with defects in the TK2 gene. This syndrome is characterized by muscle weakness with childhood onset, associated with depletion of mtDNA in skeletal muscle.

The encephalomyopathic form with methylmalonic aciduria, mtDNA depletion syndrome-9 (MTDPS9; OMIM # 245400) is caused by defects in the SUCLG1 gene, and it is characterized by hypotonia, muscle atrophy, feeding difficulties, lactic acidosis, and development delay, among other symptoms. Defects in the SUCLA2 gene causes mtDNA depletion syndrome-5 (MTDPS5; OMIM # 612073), which is difficult to distinguish from the MTDPS-9, being both associated with elevated methylmalonic aciduria.

A severe form with renal tubulopathy, mtDNA depletion syndrome-8A (MTDPS8A; OMIM # 612075) is linked to defects in the RRM2B gene. This syndrome is characterized by neonatal hypotonia, lactic acidosis, neurologic deterioration, and renal tubular involvement.

The hepatocerebral form, mtDNA depletion syndrome-3 (MTDPS3; OMIM # 251880) is linked to defects in the DGUOK gene, and it is characterized by progressive liver failure and neurological abnormalities with infancy onset, hypoglicemia, and increased lactate in body fluids. mtDNA depletion and decrease activity of the mtDNA-enconded respiratory chain complexes (I, II, IV and V) are present in the affected tissues. mtDNA depletion syndrome-6 (MTDPS6; OMIM # 256810), another hepatocerebral form, is caused by defects in the MPV17 gene. MTDPS6 is characterized by infantile onset of progressive liver failure, frequently leading to death in the first year of live, progressive neurologic involvement, including ataxia, hypotonia, dystonia and psychomotor regression is present in the infants that survive.

More information is available at: https://www.ncbi.nlm.nih.gov/books/NBK425223/;
https://www.omim.org/entry/609560 (TK2);
https://www.omim.org/entry/612073 (SUCLA2);
https://www.omim.org/entry/245400 (SUCLG1);
https://www.omim.org/entry/256810 (MPV17);
https://www.omim.org/entry/612075 (RRM2B);
https://www.omim.org/entry/251880 (DGUOK).

Regulatory status

SALSA MLPA Probemix P089 TK2 is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P089-025R
SALSA MLPA Probemix P089 TK2 – 25 rxn
MLPA
€ 286.00
P089-050R
SALSA MLPA Probemix P089 TK2 – 50 rxn
MLPA
€ 560.00
P089-100R
SALSA MLPA Probemix P089 TK2 – 100 rxn
MLPA
€ 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)
MLPA MS-MLPA
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 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.

More information about ordering & prices

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 can be used with the current (B2) version of this product.

  • Coriell NA02030: Heterozygous duplication affecting the probes for RRM2B and the reference probe at 454 nt on chromosome 8.
  • Coriell NA02718: Heterozygous deletion affecting the probes for SUCLA2 on chromosome 13.
  • Coriell NA03330: Heterozygous duplication affecting the probes for SUCLA2 on chromosome 13.
  • Coriell NA10401: Heterozygous duplication affecting the probes for MPV17, DGUOK and SUCLG1 on chromosome 2.
  • Coriell NA19401: Heterozygous deletion affecting the probes for TK2 Exon 1-2 on chromosome 16.

Resources

General MLPA resources

MLPA education

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