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Objective: The aim of this study was determine whether the cytosine-to-thymine mutation at base 677 of the gene for methylenetetrahydrofolate reductase (C677T MTHFR ), which has been associated with neural tube defects, is also associated with congenital cardiac malformations.
Line 100-37 hasplicelice site mutation at base pair 488.
DLF1 showed an A>G mutation at base 2531 with a subsequent tyrosine to cysteine substitution in codon 844.
In Finnish patients, the truncation mutation at base pair position 793 (Glu265 → stop) was associated with hereditary prostate cancer (Rökman et al, 2002).
In the affected family members, an α-synuclein G > A heterozygous mutation at base 152, codon 51 causing a glycine to aspartic acid amino acid change (Fig. 1a).
Toxicity problems due to a TATAAT sequence in the human BSEP gene [ 12] were circumvented by introducing a silent mutation at base pair position 81 (AAT →AAC).
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(16) When the mutagenicity of a model pyridyloxobutylating agent, 4- acetoxymethylnitrosamino -1- 3-pyridyl -1-butanone (NNKOAc), was investigated in CHO cells, it induced point mutations primarily at AT base pairs, suggesting that O-POB-dT might be mutagenic.
DB[ a, l]P and - anti-DB[ a, l]PDE both induced more mutations at GC base pairs than AT base pairs, but they induced significantly higher fraction of mutations at AT base pairs compared to benzo[ a]pyrene (B[ a]P).
Between 50 and 80% of documented Barrett's p53 mutations are mis-sense (GC → AT base transitions at CpG islands) and 10 50% are nonsense (Huang et al, 1993; Gleeson et al, 1998).
The advantages of MDA are that it has high single cell genome or exome coverage (>90%), which can accurately measure mutations at base-pair resolution and that it yields adequate quantities of product (average length >10 kb) from single cell genomic DNA in a short time with high fidelity [47].
A striking feature of the mutational spectra of the cross-links is that both lesions induced a large number of mutations at bases near the lesion, which we describe as semitargeted mutations (Table 1 and Figure 3) (see also Table S1 of the Supporting Information).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com