One specimen in this study contained a novel, single, point mutation
In the adverse reaction group, nine children with the specific UGT point mutation
All four patients presented wild-type sequences (no point mutation
either at codon 55 or at 57) at the P.
Detection of a novel point mutation
of the prothrombin gene at position 20209.
University of British Columbia (Vancouver, CA) has patented a single point mutation
in the human lipoprotein lipase gene which results in an A.
The change of a single molecule, called a point mutation
, in the genes that Hughes examined can alter the shape of a surface protein, disguising it from the immune system.
What we found is that if you have a single point mutation
in the genome that can give rise to resistance to both drugs at the same time, the game is over.
A point mutation
is an insertion, deletion, or substitution of a single nucleotide or base.
The paper "Targeted therapy and the T315I mutation in Philadelphia-positive leukemias" by researchers Simona Soverini and colleagues at the University of Bologna, Italy (Haematologica Volume 92, pages 401-404) offers insight into the growing therapeutic challenge presented by the T315I Bcr-Abl point mutation
in patients with chronic myeloid leukemia (CML).
A point mutation
at R345T which appears to result in loss-of-function when re-expressed in the mouse was found in 5925 healthy individuals with a heterozygous frequency of approximately 0.
When the mutated gene was translated into a protein, the point mutation
led to the substitution of methionine for lysine as the 27th amino acid in this variant of histone H3 protein.
One such reassortment event (shift), rather than a point mutation
(drift), appears to explain the emergence of the A/Fujian/411/2002-like strain that caused an epidemic during the 2003 2004 influenza season.
For each point mutation
locus, two PCR reactions in separate tubes were carried out in parallel for each DNA sample to amplify the target DNA with each of its two DNA references.
ChemGenex is currently conducting a Phase 2/3 registration-directed study evaluating the use of Ceflatonin([R]) in CML patients who have the T315I Bcr-Abl point mutation
that is associated with resistance to imatinib and other tyrosine kinase inhibitors.
In one, point mutation
, genes adapt through spontaneous mutations during DNA replication.