New sequence variants of the human msh6 - mismatch repair gene and their use

摘要

Sequence (A) of the human mismatch repair gene, MSH6, modified by exchange at - 1 of positions 116, 186, 276, 540, 642, 652, 1019 or 1186 of the coding region; +22 or -36 of intron 1; +52, +63 or -52 of intron 2; -56 of intron 3; -101 of intron 4; +14 of intron 5; -146 or +160 of intron 6; +35, +87 or -51 of intron 7; -40 or -42 of intron 8; and -7 of intron 9, or by insertion or deletion. An Independent claim is also included for a method of determining a predisposition to disease by genotyping a subject's DNA at - 1 of the specified positions and comparison with reference DNA sequences, optionally taking into account (all) possible combinations of variations of the individual mutations, including any chosen absolute number of variations.