In order to better characterize genetic variation of the P16 fragment within the sheep KRT85 gene, the amplified polymorphic DNA fragments were sequenced and three mutations (a silent mutation
EX3_49delA, a nonsense mutation EX3_ 210G/A, and a same-sense mutation EX3_354G/A), were detected (Figure 2E).
SDHB Mutational Status Metastasis 1 4 missense mutations: exon 3, c.233 A.G -- (p.K78R) and c.241 A>G (p.N81D); and exon 8, c.776 C>T (p.P259L) and c.818 A>G (p.Y273S) 2 2 missense mutations: exon 6, c.571 T>A -- (p.C191S) and c.578 G>A (p.S193N) 3 1 missense mutation: exon 3, c.221 T>C + (p.M71T) 4 1 silent mutation
: exon 1, c.171C>T (p.T57T) + 5 1 silent mutation
: exon 3, c.225T>C (p.A75A) -- 6 1 intronic mutation: exon 1, c.72+24G>A;and -- 1 silent mutation
: exon 3, c.225T>C (p.A75A) Abbreviations: HPF, high-power field; LVI, lymphovascular invasion; -, not present; +, present.
Even though it is a silent mutation
, it indicates there might be another mechanism of MAPK pathway activation in BRAF V600E-negative PLCH.
Comparisons among sequencing results showed that an alteration in exon 8: 1251 T>C silent mutation
(ss 831878774) was firstly identified (Fig.2).
at G779G found that though it was a synonymous mutation the genotypic variations might influence the response to TKI as seen with Q787Q.
Our results for spectrum of b thalassaemia mutations are in agreement with other studies across the country10,17 which show the predominance of FR 8-9 and IVSI-5 mutation in Punjabis and Pathans and CAP+1 as the commonest silent mutation
. Same results have been observed for the Indian population as shown by the studies of Garewal G et al11 and Varawalla NY et al18 but this is in contrast to the Mediterranean region where IVSI-1 (G-A), IVSI-110 (G-A), IVSI-6 (T-C) are the predominant b thalassaemia mutations19 and-101 (C-T) mutation is one of the most prevalent silent b thalassaemia mutation.9
This study revealed that Cap+1 (A-C) is a silent mutation
and it has only minimal effect on beta globin synthesis.
Key words: American mink, synonymous mutation, silent mutation
, biological effect, growth hormone gene
In addition, we observed 3 silent mutations
in gyrB and 1 silent mutation
One variation in signal peptide where G replaces A was also found in all four samples but this is a silent mutation
as it has no effect on amino acid sequence.
Additionally, a silent mutation
(c.198A>G) that did not change the amino acid (p.A66A) was identified in KRAS exon 3.
However, this was a silent mutation
still coding for the amino acid Isoleucine at the exon 4, codon 50 of the TP53 gene.