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BIO 2110
Exam IV
| Term | Definition |
|---|---|
| complete dominance | the dominant phenotype present when at least ONE dominant allele is present |
| haplosufficient | the presence of ONE dominant allele produces exactly the same amount as the presence of TWO dominant alleles |
| haploinsufficient | heterozygotes do not produce enough to produce an adequate amount of. activity but will continue showing the dominant phenotype |
| dominant negative | heterozygotes result in deformed "spoiled" proteins that interfere with the activity of regular protein created from dominant allele |
| incomplete dominance | the phenotype of the heterozygote is an intermediate between the dominant and recessive phenotypes |
| codominance | the phenotype of the heterozygote displays both dominant and recessive phenotypes simultaneously |
| What the of dominance is determined at the organism level? | complete dominance |
| What the of dominance is determined at the cellular level? | incomplete dominance |
| What the of dominance is determined at the molecular level? | codominance |
| recessive lethal alleles | mutations in the recessive homozygous state that are capable of causing the death of an organism |
| essential genes | genes that must function correctly for an organism to be viable |
| pleiotrophic alleles | alleles that affect more than one property |
| Why are genotypes + expected phenotypes not always shown to be true? | environment, interacting genes, and subtle mutant effects can influence actual phenotypes |
| penetrance | describes (in percent) the extent to which individuals with a given allele exhibits the actual phenotype associated with that genotype |
| expressivity | a measurement of the severity of phenotype intensity |
| What did the Neurospora & argenine metabolic pathway study discover? | genes are responsible for enzyme functions |
| What does complementation test for? | used to determine whether two DIFFERENT recessive mutations are in the gene |
| If two genes are complemented, they ____ in the same gene and will NOT show Mendelian inheritance patterns. | are not |
| What is complementation? | the production of the wild-type phenotype when two haploid genomes bearing two different recessive mutations are united in the same cell |
| What are the two steps of the complementation test? | 1. intercross two individuals that are homozygous for different recessive mutations 2. observe whether the progeny have the wild-type phenotype |
| If the progeny resulting from a complementation test are observed to have the wild-type phenotype, what does that mean? | the two mutations are on different genes and are complemented |
| If the progeny resulting from a complementation test are observed to have the non wild-type phenotype, what does that mean? | the two mutations are on the same genes and are not complemented |
| If you self an F1 hybrid containing genes on the same pathway, what phenotype ration will be seen in F2 progeny? | 9:7 |
| If you TESTCROSS an F1 hybrid containing genes on the same pathway, what phenotype ratio will be seen in F2 progeny? | 1:3 |
| In two genes on the same pathway, homozygous dominant is functional, homozygous recessive is non-functional. What are heterozygotes? | non-functional |
| supressor | a mutant allele of a gene that reverses the effect of a mutation of another gene, resulting in a wild-type phenotype in double recessive mutants |
| If you self an F1 hybrid with genes showing genetic suppression, what phenotype ratio will be seen in F2 progeny? | 10:6 |
| If you TESTCROSS an F1 hybrid with genes showing genetic suppression, what phenotype ratio will be seen in F2 progeny? | 1:1 |
| If you self an F1 hybrid with genes showing synthetic recessive lethality, what phenotype ratio will be seen in F2 progeny? | 9:3:3 or 9:6 |
| If you TESTCROSS an F1 hybrid with genes showing synthetic recessive lethality, what phenotype ratio will be seen in F2 progeny? | 1:1:1 or 1:2 |
| What are SNPs? | differences in a SINGLE nucleotide site |
| What is the frequency of common SNPs? | frequency ≥ 5% |
| What is the frequency of rare SNPs? | frequency < 5% |
| Where can SNPs occur? | coding, non-coding, and regulatory sequences |
| What happens if a SNP is synonymous? | the same amino acid is produced |
| What happens if a SNP is non-synonymous? | a different amino acid is produced |
| What happens if a SNP is nonsense? | a stop codon is produced |
| What are microsatellite loci? | short sequences that are repeated multiple times with different alleles having different numbers of repeats |
| Which has a higher mutation rate: SNPs or microsatellites? | microsatelites |
| Which is more abundant in genomes: SNPs or microsatellites? | microsatellites |
| What is the Hardy-Weinberg equation? | p^2+2pq+q^2=1 |
| What are the requirements of a population must be in to use the Hardy-Weinberg equation? | random mating, no mutation, no migration, no natural selection, and an infinitely large population |
| To find the allele frequencies from given genotypes, what steps should you take? | 1. Find the sum of all the alleles. 2. Divide 2(dominant)+1/2(dominant) by the total amount of alleles to get allele frequency of dominant. 2. Divide 2(recessive)+1/2(recessive) by the total amount of alleles to get allele frequency of recessive. |
| How do you check if the allele frequencies of a population follow Hardy-Weinberg? | Plug in the values of p and q that you calculated from genotypes. If they equal to 1, they are in Hardy-Weinberg equilibrium. |
| What is the equation to determine if two loci are in linkage equilibrium or not? | D=P(AB)-E(AB)=P(AB)-P(A)*P(B) |
| How do you calculate observed haplotype frequency? | P(haplotype)=(# of gametes w/haplotype)/(total # of gametes) |
| How do you calculate expected haplotype frequency? | 1. Calculate individual allele frequency 2. E(haplotype)=(allele frequency)(allele frequency) |
| If the value of D is calculated to be 0, what does that say about the two loci? | they are in linkage equilibrium |
| If the value of D is calculated to be greater or less than 0, what does that say about the two loci? | they are in linkage disequilibrium |
| As population size increases, what happens to genetic drift? | it weakens |
| What are some consequences of genetic drift? | disadvantageous alleles may reappear and advantageous alleles may disappear |
| Founder Effect | when a random group of individuals leave a larger population and create a new sub-population |
| Bottleneck Effect | a population is drastically reduced due to some natural/unnatural disaster |
| directional selection | a type of natural selection in which a populations phenotype/genotype shifts toward one direction over time |
| positive selection | a type of directional selection in which a NEW, more favorable allele is brought; leads to lower variation and higher linkage disequilibrium |
| purifying selection | a type of directional selection in which a LESS favorable allele is slowly gotten rid of over time |
| balancing selection | a type of non-directional selection in which the heterozygous is FAVORABLE and maintained over time |
| Which two occurrences ADD new variation? | mutation and migration |
| Which two occurrences REMOVE variation? | drift and selection |
| continuous trait | a trait that can exist on a spectrum rather than falling into a specific phenotype (ex: height) |
| categorical traits | a trait that exists specifically in categories of phenotype (ex: red or white flowers) |
| complex inheritance | genes that are influenced by multiple genes and environment |
| threshold traits | a trait that is limited in number of phenotypes and follows complex inheritance (ex: obesity and diabetes) |
| meristic traits | a trait that are quantitative but RESTRICTED to discrete values (ex: clutch eggs) |
| complex traits | traits that do not follow Mendelian inheritance because of environmental influences |
| If you have higher variation in a data set, what does this mean? | values are quite far from one another |
| If you have lower variation in a data set, what does this mean? | values are quite close to one another |
| If the H^2 value is closer to 1, what does that say about the role of genetics of the variation of a population? | genetics is the cause most/all the variation |
| If the H^2 value is further from 1, what does that say about the role of genetics of the variation of a population? | genetics does not cause variation |
| quantitative trait loci (QTL) | genes that control variation in complex traits; the allelic variations make very small contributions to phenotypes |
| What does QTL mapping include? | controlled crosses and DNA markers |
| What does GWAS mapping include? | DNA samples from individuals with and without specific traits; SNPs and other genetic markers are used for mapping |
| SNPs that are close to one another tend to be in what kind of linkage? | linkage disequilibrium |
| What are the 3 principles of natural selection? | variation, heritability, and selection |
| The loss of a character in a population could be caused by what? | loss or change of gene function in a coding, non-coding, regulatory, and gene activation |
| Most mutation are ____ mutations. | neutral |
| The rate of synonymous neutral mutation is higher due to what? | purifying selection |
| Positive selection has a signature ration of fixed (a/b) versus polymorphisms (c/d). What ratio would prove that positive selection is NOT occurring? | (a/b)=(c/d) |
| What are the three alternative fates of duplicated genes? | pseudogenization, neofunctionalization, and subfunctionalization |
| pseudogenization | an alternative fate to duplicated genes in which one of the duplicated genes are inactivated |
| neofunctionalization | an alternative fate to duplicated genes in which the function of one of the duplicated genes is changed/altered |
| subfunctionalization | an alternative fate to duplicated genes in which the functions of both of the duplicated genes are divided |
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gracelisabethxo
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