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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.

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A Review of Digital Watermarking by Bruce

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Categories: Genetics