Insertions/deletions

Shown are nonsense, missense, deletion/insertion and splice site mutations. The amino acid changes are predictions in most cases. 

Figure 3. Localisation of mutations in CBP and p300 in RTS patients (panel a) and tumour material (panel b). Indicated are nonsense, missense, deletion/insertion and splice site mutations, (c) Schematic representaion of the Rb-E2F and p53 pathways and the effects of CBP and p300 on these pathways...

Deletion/insertion P1764fsX1769 Cell line Colon Hetero (Ionov et al, 2004)... 

Purandare, N., Oude Voshaar, R.C., Davidson, Y., et al. (2006) Deletion/insertion polymorphism of the angiotensin-converting enzyme gene and white matter hyperintensities in dementia a pilot study. J. Am. Geriatr. Soc., 54, 1395-1400. 

The analysis of the predictive role of TS polymorphisms may be more complex if the 6-bp deletion/insertion (del/ins) polymorphism in the 3 UTR is added for consideration. The 6-bp deletion allele may cause mRNA instability and reduce intratumoral TS mRNA levels (32). The improved study design on the pharmacogenetic effect of TS polymorphisms should include a global evaluation of the combined VNTR, G/C, and 6-bp del/ins polymorphisms (33). The same global analysis applies to other genes, especially when the functional polymorphism is unclear. Haplotypes may be more informative than individual genotypes. Haplotype tag SNPs (htSNPs) based on the international HapMap project may represent the next wave of pharmacogenomic studies. 

Acetylcholinesterase inhibition has been widely used for pesticide detection [88-94], but less exploited than protein phosphatase inhibition for cyanobacterial toxin detection. Nevertheless, the anatoxin-a(s) has more inhibition power than most insecticides, as demonstrated by the higher inhibition rates [95]. In order to detect toxin concentrations smaller than usually, mutant enzymes with increased sensitivity were obtained by genetic engineering strategies residue replacement, deletion, insertion and combination of mutations. Modifications close to the active site, located at the bottom of a narrow gorge, made the entrance of the toxin easier and enhanced the sensitivity of the enzyme. 

Large-scale deletions, insertions, and tandem duplications of mtDNA are usually not found in blood cells, and the proportions of mtDNA with point mutations in blood cells are generally lower than those in muscle of patients with mitochondrial disease (PI, W5). Thus, the absence of mtDNA mutation in blood samples cannot be used to exclude mitochondrial disease (L7, PI). On the other hand, higher levels of mutant mtDNA are usually found in postmitotic tissues such as cardiac and skeletal muscles and skin tissue of patients. Large-scale deletions or point mutations of mtDNA are generally detectable in muscle biopsies of about 70% of patients with mitochondrial disease (L7, PI). Some of these patients are affected by mutations in nuclear DNA. Other, unknown mutations in mtDNA or nuclear DNA are present in the rest of the patients. 

Fig. 14. Examples of homogeneous hybridization assay methods (F luminophore, Q quencher, D donor, A acceptor). Thick lines represent DNA strands. Open circles on DNA strands indicate a SNP/mutation site for Molecular Beacon and insertion/deletion sites for dual FRET probe and dual FRET Molecular Beacon when these methods are applied to SNP/mutation typing or deletion/insertion detection. The solid circle on die strand indicates the complementary site.

Indication of modifying polypeptide N-end Indication of lysine deletion/insertion in position 153 Indication of amino acid fragment... 

DNA sequence can be readily modified using a PCR primer differing from the targeted sequence in one or more positions to produce deletions, insertions, or base pair substitutions. The function of the modified PCR products can then be compared to the original, unmodified sequence. 

Tian H, Brody LC, Landers JP. Rapid detection of deletion, insertion, and substitution mutations via heteroduplex analysis using capillary- and microchip-based electrophoresis. Genome Res 2000 10 1403-1413. 

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