One of the commonly used enzymes is Surveyor nuclease ( CEL II ), which cleaves the 32 side of both DNA strands with high specificity at sites of base substitution or insertion / deletion.
12.
Additional difficulties include base substitutions ( especially at the 3 end of reads ) by inaccurate polymerases, chimeric sequences, and PCR-bias, all of which can contribute to generating an incorrect sequence.
13.
Gene mutations are commonly point mutations, altering only one base within the genetic sequence to alter the ensuing transcript and amino acid sequence; these point mutations include base substitutions, deletions, frame-shifts, and rearrangements.
14.
Most of the mutations observed ( 65 / 78 ) are single base substitutions or SNPs, 11 deletions, 1 large and 10 small, and 2 insertions . 8 of the observed mutations are frameshift, 6 deletions and 2 insertions.
15.
At the gene level, the mutations were found to cause primarily single-base substitution mutations, which suggests that the role of hMSH6 is primarily for correcting single-base substitution mutations and to a lesser extent single base insertion / deletion mutations.
16.
At the gene level, the mutations were found to cause primarily single-base substitution mutations, which suggests that the role of hMSH6 is primarily for correcting single-base substitution mutations and to a lesser extent single base insertion / deletion mutations.
17.
Until now, all the reported causal mutations in MLPH ( melanophilin ) of humans, mice and other species have been single-base substitutions or small deletions, the effects of which were limited to the dilution of hair or feather colour . cats, dogs and minks
18.
Misexpression in the developing eye has been found to result in overgrowth, partially through single base substitution which blocks the gain-of-function phenotype, indicating the acquisition of novel functions by misexpressed miRNAs which bring about unscheduled cell proliferation " in vivo ".
19.
In aerobically growing bacteria, ROS appear to be a major source of DNA damage, as indicated by the observation that 89 % of spontaneously occurring base substitution mutations are caused by introduction of ROS-induced single-strand damages followed by error-prone replication past these damages.
20.
Several statistical methods exist to extract from a multiple sequence alignment such coupled residue pairs : observed versus expected frequencies of residue pairs ( OMES ); the McLachlan Based Substitution correlation ( McBASC ); statistical coupling analysis; Mutual Information ( MI ) based methods; and, most recently, direct coupling analysis ( DCA)
