A Specific Chemical Difference Between the Globins of Normal Human and Sickle-Cell Anaemia Haemoglobin¶
INGRAM, V. M. (1956). A Specific Chemical Difference Between the Globins of Normal Human and Sickle-Cell Anaemia Haemoglobin. Nature, 178(4537), 792-794.
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Primes¶
- Defect
- Genetic disease is the same skeleton in biology: the regular structure is the genome's coding sequence, the localised deviation is a point mutation, and a single base change in a critical gene (the sickle-cell substitution) produces macroscopic disease, the consequence propagating from one altered codon through protein folding to whole-organism phenotype.
This sourceIdentifies the single amino-acid substitution underlying sickle-cell anaemia — a point mutation with macroscopic phenotypic consequence.
- Genetic disease is the same skeleton in biology: the regular structure is the genome's coding sequence, the localised deviation is a point mutation, and a single base change in a critical gene (the sickle-cell substitution) produces macroscopic disease, the consequence propagating from one altered codon through protein folding to whole-organism phenotype.
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