Study on the Application of MLPA Detection for Large Fragment Loss of Mismatch Repair Genes in Chinese HNPCC Families

Array-MLPA is a highly efficient and precise method for clinical screening and diagnosis of HNPCC. By using this method, we found that the HNPCC families carry deletions of <i>MLH1</i> and <i>MSH2</i> genes, which are the major germline genomic aberrations in the studied probands. Nevertheless, the deletion of the <i>MSH6</i> gene is considered a rare occurrence in Chinese HNPCC families, according to our researche. Despite that, it is of clinical significance to screen and diagnose the HNPCC at the early phase by detecting the germline genomic large aberrations in <i>MSH2/MLH1</i> genes.