Genetic Analysis News You Can Use

A longitudinal study of epigenetic variation in twins

Wong, CCY et. al Epigenetics, 2010 August 16; 5:6, 1-11

This study assessed the extent to which heritable and environmental factors contribute to individual differences and developmental changes in DNA methylation at specific regions of the genome during childhood. EpiTYPER was used to measure the DNA methylation across promoter regions of 3 key genes implicated in neurological disorders within 46 monozygotic and 45 dizygotic twin pairs at the age of 5 and 10 years. The amplicons spanned between 7 and 30 CpG sites (6-18 CpG units). It was found that there are DNA methylation differences even between genetically identical individuals (MZ twins). Individual differences are not stable over time and environmental influences (both shared and non-shared) are important factors accounting for interindividual differences. However, those influences differ across different genomic regions.

Enabling Mutation Profiling Beyond the OncoCarta^™ Panel

Mutation profiling has the potential to quickly identify which signaling pathways drive the proliferation of a particular tumor type. MALDI-TOF MS has been proven as a highly advantageous method for somatic mutation profiling by leading cancer research institutes. While the OncoCarta™ Panel is suitable for a variety of research projects, individual groups may have specific interests beyond this panel. A new Application Note, MassARRAY^® System for Somatic Mutation Screening, enables the research community to effectively design assays using the same methods applied with Sequenom's pre-designed panels. The application note highlights:

• Basic principles for somatic mutation assay design
• Criteria for improving sensitivity for detection of low abundance mutations
• Assay validation to evaluate analytical sensitivity

Molecular Genotyping of Papillary Thyroid Carcinoma reveals distinct BRAF and RAS mutation patterns

A recent study published in the June 2010 issue of Modern Pathology by Michael Rivera et. al describes use of the MassARRAY^® System for systematic screening of thyroid carcinomas. Nucleic acid extracted from paraffin embedded tissue sections from 28 patients with encapsulated and 19 with infiltrative follicular variant were subjected to mass spectrometry genotyping encompassing the most significant oncogenes. Over 100 mutations in RET, BRAF, NRAS, HRAS, KRAS, PIK3CA, AKT1 and other related genes were analyzed. Through the screen, the group was able to identify that >25% of infiltrative tumors and none of the encapsulated tumors harbored BRAF 1799T>A mutation. Interestingly, >35% of encapsulated tumors had RAS mutations whereas only 10% of infiltrative tumors showed a similar profile. The method provides a rapid screen for identifying potential differences in histological subtypes.

North America: User Group Meetings

The User Group Meetings offer a special opportunity to:

• Hear how scientists are using the MassARRAY system to perform their research (if you are interested in presenting please contact us)
• Participate in roundtable discussions with fellow users
• Network with your scientific colleagues and Sequenom staff
• Learn about Sequenom's product portfolio

Choose between the following dates:

San Mateo, California	Oct 13 & 14 (all day)
Newton, Massachusetts	Oct 6, 7 & 8 (2 half days and 1 full day)

Login to your mysequenom.com account to register