Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.

摘要: Hereditary non-polyposis colorectal cancer is characterized by mutations in one of the DNA mismatch repair genes, primarily MLH1, MSH2, or MSH6. We report here identification a genomic deletion approximately 11.4 kb encompassing first two exons MSH2 gene generations an Ohio family. By Southern blot analysis, using cDNA probe spanning seven alteration each three different enzyme digests (including unique 13-kb band on HindIII digests) was observed, which suggested presence large 5' region this gene. Mouse-human cell hybrids from mutation carrier were then generated contained single copy human chromosome 2 resides. blots demonstrated same, allele, as seen diploid DNA. same monosomal hybrid failed to amplify polymerase chain reactions (PCRs) primers 1 and 2, demonstrating these sequences breakpoints involving Alu repeats identified PCR amplification sequence analysis.