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NEU Genetics Fall 2010 Lec 28
These flashcards go over most lecture and slide material from Vollmer's Fall 2010 section lecture #28
26
Microbiology
Undergraduate 1
12/07/2010

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Term
What is the definition of a Mendelian population?
Definition

A Mendelian population is a group of interbreeding, sexually reproducing individuals with a common set of genes (the gene pool)

Term
How do you calculate the genotype frequencies within a given population?
Definition

You divide the total number of individuals with a particular phenotype by the total number of samples that you have to work with. For a statistically average sampling of one non-life threatening trait the genotype expression should be .25 for AA, .50 for Aa and .25 for aa

Term
How can you calculate the allele frequencies within a given population?
Definition

For the p value (value of the dominant trait in a simple sample) you take twice the number of homo doms and add that to the total number of hets. You then divide that result by twice the total number of samples that you have

Term
What is the CCR5 gene product and what is so interesting about this product?
Definition

The CCR5 gene product is a chemokine receptor. Chemokines are signaling molecules used by the immune system and CCR5 is used by HIV particles to attach to CD4+ T cells and invade them. A deletion results in the terminal end change of 32 amino acids (hence the CCR5delta32 name) which affects the HIV binding site

Term
What is the Hardy-Weinberg Principle and what are some assumptions made regarding its conditions?
Definition

The HWE says that p2+2pq+q2=1 and p and q refer to the allele frequencies respectively. The two major conditions to this equation are that there is a large population/random mating and that there is no mutation or migration and that there is natural selection

Term
Why is the HWE what it is in terms of squared values and the like?
Definition

Within the AA genotype there are two occurances of each gene so therefore the value is squared (this also applies to aa). In the Aa case the values are multiplied by each other but since there are two occassions where this happens the value of "pq" must be doubled

Term
What happens to the number of homozygous individuals when one allele frequency is high?
Definition

Most individuals in this case are homozygous

Term
What happens to the number of individuals who are homozygous when the allele frequency is right around .5 each way?
Definition

The number of homozygotes is about the same but the number of heterozygotes is nearly double the amount of each kind of homo

Term
Let's say you're told that a form of Autism is an autosomal recessive trait which affects 1/144 newborns in the US. Calculate the p and q values and find the approximate carrier amount.
Definition

Since q2 is 1/144 (or .006944..) q=.083.. and p=.916.. . To find the amount of carriers would would have have to multiply p and q and then double that result. In this case Aa=2(.91666)(.08333)=.152777 so therefore about 2/13 people are carriers for Autism; the problem with this example, however, is that Autism is comprised of several different symptoms and severities of these symptoms and it has one of the most complex inheritance patterns out of any discovered genetic factor so far

Term
Do the genotype frequencies in males and females differ in terms of X-linked traits?
Definition

Yes, the frequencies do differ. Females will follow the p2+2pq+q2=1 model whereas males will follow the p+q=1 model. This means that for any one hit, q, males could develop an adverse development whereas women need the sqaured value of that same allele change to be affect. If q=.05 then q2 is .0025 which means that male to female cases will number 20:1 on a statistical mean

Term
What does inbreeding eventually lead to?
Definition

Inbreeding will eventually result in a lose of heterozygocity. At 4 generations of inbreeding the fraction of individuals who are hets for a random trait is 1/16 while both homs are 15/32

Term
What is the inbreeding coefficient and how is it applied?
Definition

The inbreeding coefficient (represented by F) is measured in the reduction in the expected heterozygosity. In the case of AA the equation is p2+Fpq (with q for aa) and the equation for Aa is 2pq-2Fpq

Term
How is the inbreeding factor affected by the closeness of the relatives?
Definition

The inbreeding factor is heavily increased the closer the breeding is. Self-fertilizaiton results in a factor of 1, siblings have a factor of .25 and first cousins have a factor of .0625

Term
What is the definition of mutations?
Definition

A mutation is the formation of a new allele by unnatural means (some sort of mutagent, whatever it may be)

Term
What is the definition of migration in terms of genetic effects?
Definition

Since migration is the movement of individuals this travel can bring new alleles into populations which previously didn't have these alleles

Term
What is the definition of natural selection in genetic terms?
Definition

Natural selection is the process by which populations become progressively better adapted to their environment

Term
What is the definition of random genetic drift?
Definition

Random genetic drift is the random undirected changes in allele frequency

Term
What was the main point made in Darwin's proposal of natural selection?
Definition

Organisms differ in their ability to survive and reproduce and some of these differences are due to their genotype

Term
How do you calculate the fitness (W) of a particular genotype?
Definition

You divide the number of offspring in a given genotype by the number of offspring from the most successful genotype

Term
What is directional selection and how can data from directional selection be interpreted?
Definition

Directional selection is selection that, most of the time, determines the average change in the amount of alleles in the population. In heterozygote dominance, however, both alleles are favored for either homozygotes. Other variations exist such as simple preference for the dominant allele or selection against one homozygous type but not the other with regards to hets

Term
Why is directional selection for or against very rare recessive alleles inefficient?
Definition

The recessive allele isn't exposed to selection in heterozygotes due to its staggering lack of presence within the gene pool

Term
How can selection be potentially balanced?
Definition
Selection can be balanced by new mutations. New mutations generate harmful alleles and prevent their elimination by natural selection. Eventually populations attain equilibrium in which the new mutations balance the selective elimination
Term
How can you calculate the mutation-selection balance?
Definition

For a recessive q you take the sqaure root of the mutation rate and divide it by the selection. For a dominant q you divide the mutation rate by the selection

Term
How can you calculate the selection factor for a trait such as sickle cell anemia?
Definition

You take the affected genotype's relative fitness and subtract that from one and that is the selection coefficient for that genotype. You do the same for the other genotype which does not have a fitness of 1 and you divide the affected selection coefficient by the same selection coefficient plus the unaffected selection coefficient. You subtract this from one and this is your q value. You then multiply by the affected selection coefficient to find the observed selection factor

Term
Why do small, isolated populations tend to lose genetic diversity?
Definition

The populations will eventually become fixed for a particular allele

Term
What are some two prime examples of genetic drift?
Definition

Northern elephant seals have become large the same as each other in terms of genetic variation due to being nearly hunted to extinction. Cheetahs were in the same hole and they can now accept skin grafts from any other cheetah

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