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Alleles may occur in pairs, or there may be multiple alleles affecting the expression (phenotype) of a particular trait.
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As we know that multiple MC1R alleles affect red hair colour, we performed stepwise conditional association testing and identified 31 additional association signals in this region at genome-wide levels of statistical significance (p ≤ 5×10−8), altering the odds of having red hair compared to brown and black hair (Supplementary Table 1).
As a change in a single amino acid impacts MHC-II binding across 15 potential binding frames, multiple alleles are affected, as we show in Figure 4.
Anney, R. et al. A genomewide scan for common alleles affecting risk for autism.
Partial diploids of Escherichia coli carrying normal and mutant alleles affecting oxidative phosphorylation.
These assembly-disruptive mutations are missense alleles affecting the globular head of myosin.
Alleles affecting GR can be mapped in an analogous way.
How do alleles affecting CAD susceptibility arise?
Metzendorf and Lind characterized three hypomorphic transposable element insertion alleles and two deficiency alleles affecting dmfrn.
Such goals will likely be best achieved by integrating multiple molecular techniques with experimental studies of how different mutations (alleles) affect fitness and reproductive isolation.
However, Hill and Zhang (2012a, b) have questioned the general conclusion that most alleles affect few traits, suggesting it might be an artifact of the statistical limitations of multiple-testing approaches.
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