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

GeneMarker® DNA analysis software is compatible with all major CE genetic-analyzers, and is an excellent alternative to Applied BioSystems GeneMapper® software or MRC Holland's Coffalyser.Net software. GeneMarker software is also compatible with outputs from all major sequencing systems, including ABI®PRISM, Applied Biosystems® SeqStudio, and Spectrum Compact CE genetic analyzers, as well as custom primers or commercially available chemistries from MRC Holland.

Detection of methylated sites in genomic DNA is important for the following reasons:

  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).

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 make it an excellent choice for MS-MLPA applications. 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

Embedded MS-MLPA Analysis Module

Figure 1: Methylation of the promoter region of tumor suppressor gene ESR1 is indicated by the red plot point that appears above the methylation threshold line

Comparison of Normal Methylation vs Unmethylated Sample

Figure 2: 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).

Application Notes:

MLPA is registered trademark of MRC Holland