Project leader: Chris Mattocks

Aims and Objectives
This project was used to define a service model for high throughput, indirect, mutation screening, a strategy complementary to the high throughput sequencing strategy developed by NGRL (Manchester). Using this strategy, only those fragments found to harbour sequence variations are sequenced for the purpose of characterisation. The project encompassed procedures from DNA extraction, sample batching, primary and secondary screens, data analysis and integrated system control via a LIMS.

Target genes
The project focused on screening for the BRCA1 and BRCA2 genes which require multiple tests per patient and presented the most immediate and pressing demand for high throughput analysis within the UKGTN at the time of inception. Other targets that have been setup using the system include FBN1 (for Marfan syandrome) and NF1 (for neurofibromatosis).