Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

摘要: Gene dosage abnormalities account for a significant proportion of the mutations in genes tested DNA diagnostic laboratories. Detection these changes has proved challenge as methods available to date are time consuming or unreliable. The multiplex ligation-dependant probe assay (MLPA) is new technique allowing relative quantification up 40 different nucleic acid sequences single reaction tube. We have evaluated MLPA potential use setting against following criteria: accuracy, reagent cost, hands-on time, reliability, and retests required. A total 215 UK patients referred genetic testing on basis family history consistent with autosomal dominant hereditary non-polyposis colorectal cancer (HNPCC Lynch syndrome) were by MLPA. Of these, 12 cases deletions one more exons identified, six MLH1 MSH2 deletions. Test failure rates less than 5% overall mutation detection sensitivity this series was increased approximately 50% inclusion an additional cost about 10%. Two novel 10 point also identified during course study. conclude that effective robust gene method can be readily adopted services. Comprehensive scanning incomplete without analysis. Hum Mutat 22:428–433, 2003. © 2003 Wiley-Liss, Inc.