MS-MLPA® Methylation-Specific-Multiplex Ligation-Dependent Probe Amplification for Genetic Disease and Genomic Imprinting Research

GeneMarker® software DNA analysis software is compatible with all major CE genetic-analyzers, and is an excellent alternative to Coffalyser.Net, GeneMapper®, Genotyper™, GeneScan®, and CEQ™ Fragment Analysis Software for MLPA® for detecting genetic deletions and duplications associated with various diseases and cancers. Detection of methylated sites in genomic DNA is also important: 1) If the promoter is methylated, the gene will not be transcribed and its associated protein will not be produced. 2) DNA methylation is important in genomic imprinting (Prader-Willi Syndrome and Angelman Syndrome). Panels for analysis of data from Promoter Methylation kits from MRC‐Holland (including Tumor Suppressor, Mismatch Repair genes and genomic imprinting kits) are included with GeneMarker software, and are easily downloaded or available from tech_support@softgenetics.com. GeneMarker software's Methylation Specific - MLPA® module quickly and accurately detects methylation sites for researchers studying promoter methylation and genomic imprinting diseases. GeneMarker software's ease of use and professional reporting options are an excellent choice for MS‐MLPA® applications.

Methylation of the promoter region of tumor suppressor gene ESR1 is indicated by the red plot point that appears above the methylation threshold line:

The image on the left is a normal sample. Five genes of interest (methylation specific) from the PWS/AS region of chromosome 15 appear in the “Normal” region between the methylation detection threshold lines. The image on the right is a sample from a PWS sample. The five genes of interest are in a 1:1 ratio with the reference trace indicating methylation at these five sites (one copy of 15q11.2 and one copy of 15q12 have been deleted).

Download MS-MLPA Application Note (PDF)

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