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1. However, for historical reasons this is not always the case, and the first base of the CFTR cDNA is actually nucleotide 133. 24 The Cellular and Molecular Basis of Inheritance being methylated in genomic DNA with spontaneous deamination of methylcytosine converting them to thymine. CpG dinucleotides have been termed ‘hotspots’ for mutation. Deletions A deletion involves the loss of one or more nucleotides. If this occurs in coding sequences and involves one, two, or more nucleotides that are not a multiple of three, the reading frame will be disrupted.

If the mutation codes for an amino acid that is chemically dissimilar, for example has a different charge, the structure of the protein will be altered. This is termed a non-conservative substitution and can lead to a gross reduction, or even a complete loss, of biological activity. , enzyme activity) but differs in characteristics such as its mobility on electrophoresis, its pH optimum, or its stability so that it is more rapidly broken down in vivo. Many of the abnormal hemoglobins (p. 157) are the result of missense mutations.

Dawkins R 1989 The selfish gene, 3rd ed. Oxford: Oxford University Press. An interesting, controversial concept. Fire A, Xu S, Montgomery MK, et al 1998 Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 391:806–811. Landmark paper describing the discovery of RNAi. Lewin B 2011 Genes X, 10th ed. Oxford: Oxford University Press. The tenth edition of this excellent textbook of molecular biology with color diagrams and figures. Hard to improve upon. Mettler FA, Upton AC 2008 medical effects of ionising radiation, 3rd ed.

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A Review of Digital Watermarking by Bruce


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