Fourteen polymorphic variable sites were identified: 12 SNP substitutions, one single nucleotide deletion
and one ins/del polymorphism.
Finally, a nucleotide deletion
or insertion is produced during non-homologous end joining, creating a frameshift mutation [11,12].
One of the isolates showed nucleotide deletion
in 61-77, 84-85, 100-119, 131-145, 172-179 and produced an uncharacterized protein with a resistant phenotypic result.
In contrast, only 1 of 22 (4%) MSI-L tumors showed a single nucleotide deletion
and none of the 40 MSS tumors had deletions (P < .
In the Western hemisphere, PFK deficiency appears to be prevalent among people of Ashkenazi Jewish descent, and they share two common pathogenic mutations, a splicing defect and a nucleotide deletion
, which account for approximately 95% of mutant alleles.
Cas9 enzyme which is an RNA-guided DNA endonuclease generates a double-strand DNA break and produces the mutation of nucleotide deletion
or insertion during non-homologous end joining (NHEJ) repair process of the induced DNA break [10,11].
The alignment indicated a spike gene nucleotide deletion
at positions 164-169 (TTGGTG), which corresponded to amino acid deletion at positions 55 and 56.
Inversely, PDCoV China strain HKU15-44 contained a nucleotide deletion
in the 3' untranslated region that was not present in the US PDCoV strains.
These studies also showed that all isolates had the same 11 nucleotide deletion
in the 3' untranslated region immediately downstream from the stop codon of the open reading frame (34), which provided a signature for comparing any future isolates.
Primers flanking 32 nucleotide deletion
of CCR-5 were used to generate wild type (W) and deleted (D32) fragments of 189 bp and 157 bp, respectively (5).
Mutations may involve more substantial changes to the gene's regulatory regions, such as multiple nucleotide deletions
, or, as in the case of the gene under study today, multiple nucleotide additions.
If there were a one- or two-base deletion or if the three nucleotide deletions
were not in a sequence corresponding to one amino acid, most amino acids in the CFTR after position 508 would be different compared with the normal protein.