| 摘要 |
An invention is described which provides a diagnostic approach for diseases, such as HNPCC, that are associated with defects in MMR and provides a method for determining whether any specific genetic sequence of a gene associated with MMR that differs from a consensus sequence is a mutation ( i.e.</i>, encodes a non-functional protein), a silent polymorphism ( i.e. , encodes a protein with normal protein function) or an efficiency polymorphism ( i.e. , encodes a protein with reduced efficiency in MMR). The invention allows the generation of databases of the functional significance of specific amino acid replacements on MMR protein function in vivo , which in turn will allow accurate and unambiguous interpretation of genetic tests of MMR. |
