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P429 SDHA-MAX-TMEM127

SALSA MLPA Probemix P429 SDHA-MAX-TMEM127 detects copy number variations in the SDHA, MAX and TMEM127 genes.

Specifications

Contents: 45 MLPA probes, including 12 probes for SDHA, 8 probes for the MAX region, and 4 probes for TMEM127.

Tissue: human genomic DNA, including DNA from FFPE tissue.

Application: research on pheochromocytomas (PCCs) and paragangliomas (PGLs).

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

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Key related products

P016 VHL

Contains nine probes for VHL gene (two or more probes for each exon).

P081 NF1 mix 1

Together with P082, these two probemixes contain probes for 51 of 58 NF1 exons.

P082 NF1 mix 2

Together with P081, these two probemixes contain probes for 51 of 58 NF1 exons.

View all

General information

The SALSA MLPA Probemix P429 SDHA-MAX-TMEM127 is a research use only (RUO) assay for the detection of deletions or duplications in the SDHA, MAX and TMEM127 genes, which are associated with pheochromocytomas (PCCs) and paragangliomas (PGLs).

PCCs and PGLs are highly vascular, catecholamine-secreting tumours derived from chromaffin cells in the adrenal medulla (PCCs) and from extra-adrenal neural crest progenitors (PGLs). Although PCCs and PGLs are predominantly benign, 10-15% can develop metastases (Jimenez et al. 2013). Up to 40% of the PCC and PCL patients carry a germline mutation in one of the at least 12 genes, among them are the SDHA, MAX and TMEM127 genes (Gimenez-Roqueplo et al. 2012; Neumannn et al. 2002). Eight out of the remaining susceptibility genes – VHL, SDHB, SDHC, SDHD, NF1, RET and HRAS – are included in other available SALSA MLPA Probemixes (see Related SALSA MLPA Probemixes on page 9).

Mutations in the succinate dehydrogenase complex subunit gene A (SDHA), at 5p13.33, can lead to PCC and PGL with variable penetrance (Burnichon et al. 2010). Moreover, bi-allelic SDHA mutations have been shown to cause an early onset neurodegenerative disorder known as Leigh syndrome (Hovarth et al. 2006).

Germline mutations in myc-associated factor X (MAX), at 14q23.2, have been shown to be responsible for ~1% of PCC/PGL patients (Comino-Mendez et al. 2011; Burnichon et al. 2012). The MAX transcription factor is a member of basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. Through the ability of MAX to form homo- or heterodimers with other family members, like MYC and MAD, the MAX gene is suggested to act as a tumour suppressor gene and to play an important role in cell proliferation, differentiation and apoptosis (for review see Dang 2012; Cascon and Robledo 2012). Recently, both germline and somatic intragenic copy number alterations (CNAs) of MAX gene have been described (Korpershoek et al. 2016; Daly et al. 2018).

Truncating or missense germline mutations in transmembrane protein 127 (TMEM127), at 2q11.2, have been identified in PCC patients. Truncating or missense TMEM127 mutations can lead to inactivation of the mTOR1 protein kinase (Qin et al. 2014) that regulates cell growth, cell proliferation, cell motility, cell survival, protein synthesis, autophagy and transcription (Lipton and Sahin 2014). Although pathways via which TMEM127 acts are yet to be further elucidated, research has shown that the TMEM127 protein is a component of the mTORC1 lysosomal nutrient-sensing complex (Deng et al. 2018).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1548/

Regulatory status

SALSA MLPA Probemix P429 SDHA-MAX-TMEM127 is for research use only (RUO) in all territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P429-025R
SALSA MLPA Probemix P429 SDHA-MAX-TMEM127 – 25 rxn
MLPA
€ 296.00
P429-050R
SALSA MLPA Probemix P429 SDHA-MAX-TMEM127 – 50 rxn
MLPA
€ 580.00
P429-100R
SALSA MLPA Probemix P429 SDHA-MAX-TMEM127 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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 (C1) version of this product.

  • Coriell NA05966: Heterozygous duplication affecting the probes for OTX2, MAX, RDH12 and NPC2 on chromosome 14.
  • Coriell NA10401: Heterozygous duplication affecting the probes for STARD7, TMEM127 and ITPRIPL1 on chromosome 2.
  • Coriell NA14131: Heterozygous deletion affecting the probes for CCDC127, SDHA and PDCD6 on chromosome 5.
  • Coriell NA14523: Heterozygous duplication affecting the probes for CCDC127, SDHA and PDCD6 on chromosome 5.

Resources

General MLPA resources

MLPA education

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