Testverfahren zur Identifizierung von Personen mit defektem Mismatch-Reparatursystem

摘要

The invention relates to a test procedure to establish the existence of a hereditary defect in the mismatch repair system (MMR system) or to establish the existence of hereditary non-polyposis colorectal cancer (HNPCC) or a predisposition thereto in a person to be examined. The inventive test procedure involves the culturing of non-neoplastic cells of the person to be examined in conditions permitting cell division, whereby a mutagenic stimulus is provided before and/or during culturing. The invention also includes the production of several DNA samples from the cultivated cells which correspond basically to one or several of these cells with respect to DNA quantity or genomic DNA sequential information contained therein. The information finally includes the amplification of certain sections of the DNA samples by means of polymerase chain reaction (PCR) using sequence-specific primers, especially microsatellite DNA specific primers, and the analysis of amplification products in relation to a higher occurrence of mutations within the amplified sequences. Another aspect of the invention is related to the use of microsatellite DNA specific primers in the inventive method.