Calculating the Secrets of Life Contributions of the Mathematical Sciences to Molecular Biology (1995) / Chapter Skim
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Pages 16-17
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The first breakthrough was the genetic mapping of CF to human chromosome 7 in 1985 (Figure 1.11~. Genetic mapping involved showing that the inheritance pattern of the disease in families is closely correlated with the inheritance pattern of a particular DNA polymorphism (that is, a common spelling variation in the DNA)
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From page 17... ...
From the DNA sequence, it became clear that the CF gene encoded a protein of 1,480 amino acids and that the most common misspelling in the population (accounting for about 70 percent of all CF alleles) was a three-letter deletion that removed a single codon specifying an amino acid, a phenylalanine at position 508 of the protein.
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