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What different methods exist for studying genetic variation at a molecular level? How could an allele polymorphism mutation be shown to contribute to a disease/ trait?
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What different methods exist for studying genetic variation at a molecular level? How could an allele polymorphism mutation be shown to contribute to a disease/ trait? Almost all human genetic variation is relatively insignificant biologically- that is, it has no apparent adaptive significance. Some variation such as a neutral mutations, alter the amino acid sequence of the resulting protein but produces no detectable change in its function. Other variation, for example, silent mutations, do not even change the amino acid sequence of a polypeptide. Furthermore, only a small percentage of the DNA sequences in the human genome are coding sequences (sequences that are ultimately translated into protein) or regulatory sequences (sequences that can influence the level, timing, and tissue specificity of gene expression). However, these supposedly silent variations may be useful in mapping specific genes in the human genome, is not allowing the study of variation amongst...
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