Aaron R Ellison

US Patent:

20030138787, Jul 24, 2003

Filed:

Mar 29, 2002

Appl. No.:

10/109791

Inventors:

Grant Bitter - Agoura CA, US
Aaron Ellison - Thousand Oaks CA, US

International Classification:

C12Q001/68
C12N001/18
C12N015/74

US Classification:

435/006000, 435/483000, 435/254200

Abstract:

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., 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.

US Patent:

20080038723, Feb 14, 2008

Filed:

Jun 7, 2004

Appl. No.:

10/863872

Inventors:

Grant Bitter - Agoura CA, US
Aaron Ellison - Thousand Oaks CA, US

International Classification:

C12Q 1/68
C07K 14/395
C12N 1/19
C12N 15/31

US Classification:

435006000, 435254210, 436094000, 530358000, 536023740

Abstract:

Methods and materials are described for determining the susceptibility of an individual to diseases associated with defects in DNA mismatch repair function, principally human colorectal and other cancers, by the use of activity assays to assess the functional significance of mutations in genes encoding DNA mismatch repair proteins. These methods allow the prospective identification of amino acid substitutions, corresponding to naturally occurring genetic mutations, which impair human DNA mismatch repair function and may lead to oncogenic consequences. Certain irregular sequences encoding protein sequences that differ from native DNA mismatch repair proteins, and which may foretell a higher probability for developing cancer and other genetically based diseases, have been now been newly identified by these methods.