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SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation

Lynch syndrome

Region: MLH1 3p22.2; MSH2 2p21

SALSA® MLPA® probemix P248 MLH1-MSH2 Confirmation can be used to confirm results obtained with SALSA® MLPA® P003 MLH1-MSH2 probemix. We strongly recommend using the P003 probemix for primary screening.

Germline defects in the DNA mismatch repair genes MSH2 and MLH1 are the major cause of hereditary non-polyposis colon cancer (HNPCC; Lynch syndrome). Detection of the germline defect in HNPCC families allows identification of relatives who require appropriate surveillance and prevents useless surveillance in non-carrier relatives. Roughly 20% of the MSH2 mutations, and ~5% of the MLH1 mutations found in Lynch syndrome patients are large genomic deletions (http://www.ncbi.nlm.nih.gov/books/NBK1211/). Apart from MLH1 and MSH2, genes involved in HNPCC are EPCAM, MSH6 (available in Probemix P072 MSH6) and PMS2 (Probemix P008 PMS2).

The MLH1 gene (19 exons), spans ~57 kb of genomic DNA and is located at chromosome 3p22.2. The MSH2 gene (16 exons), spans ~80 kb of genomic DNA and is located at chromosome 2p21.

This P248-B1 MLH1-MSH2 Confirmation probemix contains probes for all 19 MLH1 exons and all 16 MSH2 exons. For MLH1, three exon 1 probes, and for MSH2, two exon 1 probes are included. Also, one probe located downstream of the MSH2 gene is present. The probemix further contains ten reference probes detecting sequences on other chromosomal locations.

Apart from a single MSH2 exon 1 probe, all probes detect different loci compared to the probes present in the P003 probemix.

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.

Order Items

Probemix

Item no.
Description
Technology
Price
P248-025R
SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation – 25 rxn
€ 243.00
P248-050R
SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation – 50 rxn
€ 486.00
P248-100R
SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

Improved Nov 03, 2020

SALSA MLPA Probemix ME011 Mismatch Repair Genes

Contains MS-MLPA probes for promoter regions of MLH1, MSH2, MSH6 and PMS2 genes.

SALSA MLPA Probemix ME042 CIMP

Contains 31 MS-MLPA targeting the promoter regions of the CACNA1G, CDKN2A, CRABP1, IGF2, MLH1, NEUROG1, RUNX3 and SOCS1 genes.

SALSA MLPA Probemix P003 MLH1/MSH2

Probes for each exon of the MLH1 and MSH2 genes.

SALSA MLPA Probemix P008 PMS2

Probes for the complicated PMS2 gene.

SALSA MLPA Probemix P043 APC

Hereditary polyposis colon cancer, gene included APC.

SALSA MLPA Probemix P072 MSH6-MUTYH

Probes for MSH6, MUTYH, MLH1 and MSH2 upstream regions.

SALSA MLPA Probemix P378 MUTYH

Probes for each exon of the MUTYH gene.

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Improvements

One HhaI digestion control probe replaced,four reference probes removed,one SNP-specific probe added