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ME033 TNDM

ME033 TNDM detects methylation status of the PLAGL1 gene and copy number variations in the PLAGL1 gene and the 6p22, 6p24 and 11p15 regions.

Specifications

Contents: 43 MLPA probes, including 21 probes for the 6q24 region of which 10 target PLAGL1, 5 probes for 6p22 and 5 probes for 11p15. Of these, 4 probes provide information on the methylation status of PLAGL1:alt-TSS-DMR.

Tissue: human genomic DNA.

Application: research on transient neonatal diabetes mellitus (TNDM).

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

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General information

The SALSA MLPA Probemix ME033 TNDM is a research use only (RUO) assay for the detection of aberrant methylation of one or more sequences of the PLAGL1 gene on the 6q24 chromosomal region. This probemix can also be used to detect deletions/duplications in the PLAGL1 gene; the chromosomal regions 6p22 and 6q24, as well as the chromosomal region 11p15.

Genomic imprinting is the monoallelic expression of genes, dependent on the parental origin of the chromosome. It plays a role in growth and development. Imprinting disorders like Transient Neonatal Diabetes Mellitus (TNDM) originate from a disturbance in this monoallelic expression by disruption or epimutation of imprinted genes (Ishida et al. 2013).

TNDM is a form of diabetes that occurs in infants and is characterised by severe intra-uterine growth retardation, hyperglycemia, dehydration and absence of ketoacidosis.

Three different genetic mechanisms have been described as major causes of TNDM (Temple et al. 2005) (also see Figure 1): paternal uniparental disomy of chromosome 6 (pUPD6) (~40% of TNDM cases), duplication of the 6q24 paternal allele (~30% of TNDM cases), and hypomethylation of the maternal PLAGL1 differentially methylated region (DMR) (PLAGL1:alt-TSS-DMR) (~30% of TNDM cases). In this last group, hypomethylation can result from either an isolated imprinting variant (only affecting the PLAGL1:alt-TSS-DMR), or as part of multi-locus imprinting disturbances (MLIDs). Approximately half of the TNDM-MLID cases are due to a defect in the ZFP57 gene.

In order to detect the majority of TNDM cases, several PLAGL1-specific probes, of which four methylation-specific probes targeting the PLAGL1:alt-TSS-DMR, as well as other probes targeting the 6q24 region, have been included in ME033-B1. Additionally, five ZFP57-specific MLPA probes detect copy number changes of ZFP57.

Copy number probes for two other genes are included in this probemix because of their involvement in TNDM: INS and KCNJ11 (11p15). Recessive loss of function mutations in the INS gene have been reported in several patients with TNDM (Støy et al. 2021), whereas activating mutations in KCNJ11 have been reported as a possible cause of TNDM (Gloyn et al. 2006). Additionally, probes for ZC2HC1B (6q24, downstream of PLAGL1), SF3B5 (6q24, upstream of PLAGL1) and several other genes in the flanking region are included to determine copy numbers of the 6q24 chromosomal region.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1534/.

Regulatory status

SALSA MLPA Probemix ME033 TNDM is for research use only (RUO) in all territories.

Product documentation

Version B1

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
ME033-025R
SALSA MLPA Probemix ME033 TNDM – 25 rxn
MS-MLPA
€ 296.00
ME033-050R
SALSA MLPA Probemix ME033 TNDM – 50 rxn
MS-MLPA
€ 580.00
ME033-100R
SALSA MLPA Probemix ME033 TNDM – 100 rxn
MS-MLPA
€ 1135.00

Required reagents

A general SALSA MLPA Reagent Kit and SALSA HhaI are required for MS-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
SMR50
SALSA HhaI – 115 μl
MS-MLPA
€ 48.00

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.

See this support article for commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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