Sentence examples for mutation in samples from inspiring English sources

We present data on genotype distributions in reference to p.F508del mutation in samples of newborns, adult controls and CF patients from five Brazilian states, in which a total of 2683 newborns born to Brazilian white parents and 500 African-Brazilians adult controls were screened, as well as 300 CF patients (262 European descents and 38 African descents) were genotyped.

Linkage analysis was used to determine the candidate region for the mutation in samples from 11 affected members and 14 unaffected members.

The FRET/MCA was used to detect the L1014S and L1014F kdr mutation in samples of the WHO bioassay (collected in 2004 2006).

In terms of colorectal cancer, those discrepancies might be explained under three conditions: 1, overexpression of mutated P53 mRNA in cancer cells as compared with normal cells; 2, a higher content of cells without P53 mutation (normal cells and cells showing K-RAS and/or APC but not P53 mutation) in samples presenting P53 mutation; 3, heterozygous or hemizygous mutations of P53 gene.

We evaluated the presence of the mutation in samples from four of the proband's relatives, from whom genetic material was available; three individuals affected with ovarian or breast cancer were carriers of the family mutation, and the proband's unaffected daughter was also a carrier.

The G12A substitution in sample 11 was present in 21% of 1358 reads and the T790M resistance mutation in sample 10 occurred at a frequency of 20% out of 909 reads (Table 1).

Specifically, we identified the exon 19 mutation in sample 05 to be a 9-bp in-frame deletion encoding the amino acid deletion-substitution E746_R748del_A750, at a frequency of 11% of 1315 reads (Table 1).

The SHH mutation in Sample 1, FLT3 mutation in Sample 3, and DMBT- 1 mutation in Sample 4 were validated using PCR and capillary sequencing.

Point mutation in sample NE 16 was confirmed by four independent RT-PCR reactions.

We analyzed these two samples with a real-time PCR-PNA clamp assay that confirmed the mutation in sample 2768 but not in sample 3000.

One PIK3CA mutation in sample P72_pos was called at 1% allele frequency by NGS, and this mutation was therefore unlikely to be detected by Sequenom analysis.