Test 3A Flashcards
Allele Frequency
Number of genes of the counted allelic type, divided by the total number of gene
- At a given site, the frequency of allele A is the number of genes in the population that fall into the A allelic class divided by the total number of genes in the population -
Can you calculate allele frequencies in simplified examples?
Yes, the number of genes of the counted allelic type, divided by the total number of genes (i.e., twice the number of people)
- In this 2-person population, the frequency of the C allele at the fifth site is 0.25 (1/4). The frequency of the A allele is 0.75 (3/4).
- In this 2-person population, the frequency of the T allele at the ninth site is 0.5 (2/4). The frequency of the C allele is also 0.5 (2/4).
How should allele frequencies at sites (SNPs) affecting a binary trait differ in cases and controls?
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What is mutation?
The ultimate origin of all genetic differences.
What is natural selection?
Sometimes an allele frequency does not change just by chance
- One allele may consistently tend to become more common.
- Individuals who are better at surviving and reproducing pass on to their offspring the genes partly responsible for their success.
What conditions must be met for natural selection to occur?
- There are individual differences that affect fitness (the ability to survive and produce offspring).
- Some fraction of those individual differences are caused by genetic differences (i.e., the differences are heritable, h2 > 0).
Does schizophrenia show any relationship to fitness (the ability to survive and reproduce)?
Great reduction in fitness compared to the general population
- Males are less than females
Does autism spectrum disorder show any relationship to fitness (the ability to survive and reproduce)?
Great reduction in fitness compared to the general population
- Males are less than females
- SCZ fitness reducing
What does natural selection tend to do to existing genetic variation introduced by long-ago mutations?
later generations become genetically and phenotypically more and more like the fittest members of the earlier generations
Does it matter whether natural selection favors a higher mean, a lower mean, or the current mean?
Stabilizing selection favors the current mean; individuals with extreme values in either direction have lower fitness.
- Our examples so far have focused on directional selection, which favors one extreme of the phenotype (higher or lower).
Natural Selection: why do traits show as much genetic variation as they do today?
Heritability is the fuel of evolution; if a trait is not heritable (i.e., h2 = 0), then it cannot change in response to natural selection.
- Problem: If the h2 of a trait is the fuel of its evolution, we might naively expect a trait that has undergone substantial evolution to have a nearly empty tank today.
What is the effect of paternal age on the number of mutations transmitted from fathers to children?
A 45-year-old father is expected to transmit 50 more mutations than a 20- year-old father.
What did the study by D’Onofrio et al. (2014) find about the within-family relationship between birth order and mental illness?
It appears that 50 more mutations cause a ~25-fold increase in the rate of BIP diagnoses!
- Within-family results of D’Onofrio et a provide some evidence for the notion that there are many potential sites affecting mental illnesses.
What might happen to such genetic differences if the optimal trait value differs in different parts of the range where the species lives?
Keep in mind that certain forms of mental illness (BIP, ASD) show positive genetic correlations with traits that we might naively call “good” (higher IQ, more education).
- Perhaps there are tragic tradeoffs; optimizing one aspect the mind may lead to impairments of other aspects.
How is this possibility illustrated by the study of Trinidad guppies by O’Steen et al. (2002)?
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