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HMB265H1 Lecture Notes - Lecture 15: Quantitative Trait Locus, Mutation Rate, Dna Replication

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23 Mar 2016
School
UTSG
Department
Human Biology
Course
HMB265H1
Professor
Stephen Wright

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HMB265H1 Full Course Notes
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Document Summary

Inherited mutations appear as alleles in populations of individuals passed on as new ones. Each type of base is susceptible to different types of damage/mutation. Wild-type: the version of the gene form found in nature (or in standard lab stock); an allele whose frequency is more than 1% of the population. These can vary in size from single base to many base: if it gets really large they are chromosomal insertions/deletions. These have very large effects on phenotype. Mutant: the form that has changed due to a mutation; an allele whose frequency is less than 1% Forward mutation: changes wild-type allele to a different allele, i. e. , a+ a, or d+ d. Reverse mutation: causes novel mutation to revert back to the wild-type allele (reversion), a a+, or d d+ Causes of spontaneous mutations: depurination: hydrolysis of a purine base from its deoxyribose backbone leaves the strand with an.

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Related Questions

1. Humans have the scientific name Homo sapiens. We are members of the family Pongidae, in the order Primates, in the class Mammalia, in the phylum Chordata. Based only on this information, which of the following is not a correct statement?

a. The speciation event (lineage-splitting) that generated the genus Homo occurred earlier than the speciation event that generated the species H. sapiens.

b. The most inclusive of these taxonomic groups is Chordata.

c. The genus Homo might have as many species as are in the entire family Pongidae.

d. There can be no other species in the genus Homo.

e. All mammals must be Chordates.

2. Endotherms differ from ectotherms in that:

a. Environmental temperature has little effect on the energy budget of endotherms but a strong effect on the energy budget of ectotherms.

b. An endotherm's metabolic rate is not affected by temperature whereas the metabolism of an ectotherm has a Q10 of 2-3.

c. Endotherms are vertebrates and ectotherms are invertebrates.

d. On average, endotherms are much better sprinters (i.e., can run faster for short distances) than ectotherms.

e. Endotherms are much better able to support endurance exercise than ectotherms.

3. You measure oxygen consumption of a lizard at three temperatures, as follows: 18 °C: 0.090 ml O2/min 23 °C: 0.135 ml O2/min 28 °C: 0.200 ml O2/min From these data you calculate the Q10 to be:

a. 1.8

b. 2.0

c. 2.2

d. 2.5

e. none of these are correct.

4. What is the best description of how evolution by selection (natural or artificial) works?

a. mutation generates variation randomly, sex makes new combinations of genes randomly, and selection picks the best ones for reproduction.

b. selection leads to non-random mutation to make useful new alleles, which are then combined by sex.

c. exposure to environmental factors leads to non-random mutations that improve fitness.

d. through selection, mutations occur in those genes that will improve fitness.

e. mutation generates random new alleles, and sex combines them in ways that select the best for future generations.

5. Which of the following is a correct match between a major lineage and its characteristics?

a. Archaea: extremophiles, ribosomes, RNA as genetic material, no nuclear membrane

b. Eukarya: mitochondria, DNA as genetic material, photosynthetic or chemohetrotrophic

c. Bacteria: mitochondria, DNA as genetic material, no nuclear membrane

d. Eumetazoa: extremophiles, ribosomes, DNA as genetic material, nuclear membrane, chemoheterotrophic

e. Protostomes: triploblastic, eucoelomate, blastopore becomes anus, indeterminate cleavage

6. Which of the following statements about animal life history events is correct?

a. Being multicellular requires a larval stage in the life cycle.

b. Mutation is sufficient to produce considerable genetic variation between different tissues in an individual.

c. Senescence is defined by slow, constant decline in survival as individuals get older.

d. Different cell types are formed when different but specific portions of the zygote’s DNA are lost from the different germ layers during development.

e. In an individual, the only cells that differ genetically from other cells are gametes.

7. Which of the following statements about terrestrial vertebrates is correct?

a. Jaws evolved from paired appendages, which in turn evolved because they improved swimming ability.

b. Legs evolved from fins after early fishlike vertebrates invaded the land.

c. Jaws and inner ear bones evolved from gill arches, and leglike appendages evolved under selection for aquatic locomotion.

d. Viviparity (giving birth to well-developed young instead of laying eggs) was vital to the ability to reproduce on land without returning to the water.

e. Lungs for breathing air evolved after early fishlike vertebrates invaded the land (the first land vertebrates had to depend on gills for breathing air)

8. The essential features of a hydrostatic skeleton include:

a. antagonistic muscles.

b. a non-deformable fluid-filled space

c. flexible joints.

d. compressible material capable of changing volume

e. all of the above (a) – (d) are correct.

9. You are a Peace Corps volunteer physician in a developing country. You notice that some of the villages you visit have a high incidence of a parasitic disease, but other nearby villages are unaffected. Investigating you find the villages with disease are in wet areas with lots of snails and frogs, while the disease-free villages are in drier places but have lots of insects and mice. From this information, what might you reasonably conclude about the type of parasite responsible for the disease?

a. It’s a trematode (these need mollusks as intermediate hosts).

b. It’s a nematode (these are vectored mainly by frogs).

c. It’s an apicomplexan parasite (these require wet areas and enter the skin through standing water).

d. It’s a trypanosome (these are transmitted by mammal bites).

e. The information doesn’t provide useful clues about the type of parasite.

10. Which of the following pairs of primary diagnostic characters is correctly matched with taxonomic groups?

a. circulatory system vs. water vascular system: Nematoda vs. Echinodermata

b. schizocoely vs. enterocoely: Radiata vs. Bilateria

c. pharyngeal slits vs. polyp and medusa: Chordata vs. Cnidaria

d. gastrovascular cavity vs. complete gut: Cnidaria vs. Cestoda

e. hemocoel vs. contractile vacuole: apicomplexans vs. rhizopoda

Please provide explanation too.

Messenger RNA (mRNA)...

a) Is a structural part of a ribosome

b) Brings amino acids to DNA

c) Carries genetic information from the nucleus to the cytoplasm

d) Is a structural part of a chromosome

e) Initiates and directs chemical reactions

Mr. Potato is homozygous dominant (KK), his son, Potato Jr. is heterozygous (Kk). Based on this information, what are the possible genotypes for Mrs. Potato? (Hint: use a Punnet Square).

a) Her genotype is definitely kk

b) Her genotype is either Kk or kk

c) Her genotype is either KK or Kk

d) Her genotype is either KK, or Kk, or kk

e) Mr. Potato cannot be Potato Jr’s biological father

12. Homologous chromosomes:

a) Are members of different chromosome pairs

b) Are genetically identical

c) Carry genetic information that influences the same traits (same genes but probably different alleles)

d) Are only inherited from the mother

e) Are only inherited from the father.

“Fitness” in an evolutionary sense, refers to an individual’s:

a) Strength

b) Reproductive success

c) Aggressiveness

d) Size

e) Age at death

The fact that individuals who possess favorable traits are more likely to survive and reproduce than those who possess less favorable traits is the basis for the theory of...

a) uniformitarianism.

b) natural selection.

c) the inheritance of acquired characteristics.

d) catastrophism.

e) the fixity of species.

Even with strong selection, genetic variation of a population can be maintained because:

a) Selection only affects one gene at a time.

b) The effects of many alleles are hidden from selection by the effects of other alleles

c) Mutation constantly adds new alleles at an extremely fast rate.

d) Populations always go extinct before their gene frequencies are dramatically altered.

e) Only a and c

Gene Flow is defined as the:
a) Production of new alleles
b) New musical group in which Adam Levine will be the leading vocalist
c) Exchange of genes between populations
d) differential reproductive success of individuals
e) Process by which a DNA base gets extracted out of the nucleus to initiate the process of protein synthesis.

The basic unit of DNA is a molecule called a: a) Nucleotide

b) Base
c) Thymine
d) Prokaryoticcell e) mRNA

How many bases code for one amino acid? a) one

b) two
c) it depends on what amino acid it is d) three
e) four

Hemophilia is a condition that affects: a) more females than males
b) more males than females
c) females and males equally

d) only children born prematurely
e) individuals with a missing portion of chromosome number 5

A clear example of directional selection is:
a) Darwin finches with deeper and thicker beaks associated to a severe drought b) Sickle cell anemia in regions in which Malaria is endemic
c) Achondroplasticdwarfism
d) Fly halteres becoming fully developed wings after modification of a hox gene e) all of the above

Meiosis is evolutionarily significant because:
a) New combination of alleles can arise through independent assortment and crossing over

22.

23.

24.

25.

26.

b) It is the mechanism by which body tissues are repaired
c) It creates somatic cells that are crucial for our body organs to maintain us alive d) It allows forensics to determine the cause of death of unidentified people
e) none of the above

Homologous chromosomes:

a) Are exact copies of each other and contain exactly the same genetic material
b) Are members of different chromosome pairs
c) Are only inherited from the father
d) carry genetic information that influences the same traits (the same genes), however, each of the homologous chromosomes can contain different versions of the same gene (different alleles).

e) carry genetic information that influences different traits because each of the homologous chromosomes contains completely different genes at very different loci

How many chromosome pairs occur in a normal human somatic cell?

a) 46 b) 23 c) 22 d) 24 e) 45

What is the scientific method? Use bullet points to describe the 4 major components.

How is a hypothesis different from a theory?

List the four major components (described during class) necessary for natural selection to occur [AKA Darwin’s Four Postulates] (PDF1-3).

27. Who was Thomas Malthus? In what way(s) Malthus was influential for Darwin’s Theory of Natural Selection? Hint: populations vs resources.

29. What amino acids are being coded for by the gene segment provided below? Nucleotide triplets and their corresponding amino acids are:
ACA= Cysteine; AAA=Phenylalanine; TGG=Threonine; CCT=Glycine; GAT=Leucine; ATA=Tyrosine; AGG=Serine; TCT=Arginine

a) Threonine, serine, glycine, tyrosine, leucine, phenylalanine, arginine, cysteine.

b) Tyrosine, leucine, glycine, threonine, arginine, threonine, serine, cysteine.

c) Arginine, cysteine, serine, glycine, threonine, leucine, phenylalanine, tyrosine.

d) Phenylalanine, leucine, tyrosine, glycine, serine, threonine, cysteine, arginine.

e) Phenylalanine, leucine, tyrosine, glycine, threonine, phenylalanine, arginine, serine.

Expression vectors inprokaryotes do not make functional eukaryotic gene products inbacteria very well because

Answer Not sure which one ?!

· the codon sequence for prokaryotes is differentthan the codon sequence in eukaryotes

· there are no disulfide bridges formed in proteinsnormally made in prokaryotes

· prokaryotic expression vectors cannot translateeukarytic sequences

· eukaryotic genes have introns, and prokaryotesdon't

· eukaryotic genes have exons and prokaryotesdon't


I create a knockout mouseusing the agouti/black fur system \. When I cross the agoutioffspring of the originally engineered mouse, I find a ratio of 2agouti mice to 1 black furred mouse. What is the bestexplanation?

Answer not sure which one?!

· The gene knocked out was recessive.

· The gene knocked out was dominant.

· The gene knocked out was a lethalgene.

· The knockput was integrated into a random spot,and did not knockput the original gene.

A restriction enzyme cuts DNAand leaves the following end

xxCTGCA
xxG

Which of the following could be the sequence of the correspondingend of the other end of the cut DNA?

Answer

· xxG
xxCTGCA

· xxC
xxGTGCA

· xxCCGAT
xxG

· xxGGCTA
xxC


An SNP always occurs dueto

Answer

· a one base-pair change.

· a three base-pair change.

· a single restriction site change.

· a single amino acid change.

· None of these.


I PCR out a mutated gene in apatient with Lisenbee chorea (the inability to dance in acoordinated fashion) and I compare it to another patient with thatsame disease phenotype. One subject had a mutation on chromosome 4,and the other subject couldn't rock it because of a mutation onchromosome 5. This is an exampe of

Answer

· pleitropy

· locus heterogeneity

· allelic heterogeneity

· dominant negative mutation

· penetrance

In his experiments, Mendelnoted that when two traits are involved in a genetic cross, theyare inherited independently of each other. Though Mendel didn'tknow about chromosomes, this still holds true (mostly)because

Answer

· genes on the same chromosome are often mixedthrough meiotic crossover during the formation ofgametes.

· variant alleles of the same gene do not interferewith the phenotypic expression of the gentoype in different geneticloci.

· most higher organisms are diploid, making only twoalleles available for every genetic locus, and there is a 50/50chance of geting either allele from a single parent.

· expression of phenotypes can vary from thegenotypes because of encironmantal influences.

· chromosomes often recombine

Anticipation is caused by amutation that increases in expressivity over subsequentgenerations.

Answer

· True

· False

Question 44

I have a genotype that shouldproduce a specific phenotype, but some of the individuals with thegenotype do not demonstrate any evidence of the phenotype. I wouldconsider this an example of

Answer

· allelic heterogeneity.

· locus heterogeneity.

· penetrance.

· expressitivity.

· sheer luck.

Question

Which of the following doesnot occur during the PCR reactions?

Answer

· Changes in the reaction temperature by athermocycler

· Denaturation at high temperatures

· Synthesis of oligonucleotide primers

· Extension of primers by DNA polymerase

· Annealing of oligonucleotide primers

Question

DNA markers, or variantnon-coding regions of DNA, are DNA polymorphisms that are usefulfor genetic mapping.

Answer

· True

· False

A mosaic is an organismwith

Answer

· multiple genotypes within one organism

· multiple alleles within one genotype

· more than one color of fur

· transgenes added to the zygote beforedevelopement

· a wt phenotype but a mutated genotype

Question

Genotype causesphenotype.

Answer

· No, gentoype just influences phenotype.

· Yes, genotype is the DNA sequence that createsphenotype.

Question

A true genetic chimera can becreated by

Answer

· mutating a gene early on in the development of anorganism resulting in different alleles being present in theadult

· multiple fertilized eggs or zygotes fusing to formone embryo

· adding a transgene to the genome of an organismduring fetal development only

· adding cells of a different species to an adultorganism

· adding a transgene to the genome of an animal atany stage in development

Question

The ABO blood group can bestbe explained by the concept of _______.

Answer

· dominant traits

· recessive traits

· allelic heterogeneity

· locus heterogeneity

· vampirism

If a loss of functionmutation creates a dominant phenotype, it may be becauseof

Answer

· haploinsufficiency

· penetrance

· expressivity

· allelic heterogeneity

· locus heterogeneity

Please select the best matchfor each.

Answer

· PCR: Technique used to generatecopies of a DNA fragment

· Southern blot : Screeningprocedure used to assay DNA fragments

· RFLPs : DNA fragments generatedby restriction enzymes that vary in length betweenindividuals

· Northern blot : Screeningprocedure used to assay mRNA fragments

· Electrophoresis Movement ofmacromolecules in an electrical field

Answer

A.

Screening procedure used toassay DNA fragments

B.

Movement ofmacromolecules in an electrical field

C.

Screening procedure used toassay mRNA fragments

D.

DNA fragments generated byrestriction enzymes that vary in length betweenindividuals

E.

Technique used to generatecopies of a DNA fragment

A gene mutates, and theprotein produced has a novel way of interacting with the cell, andcreates a new phenotype because of this new functionality. This iscalled

Answer

· pleitropy

· locus heterogeneity

· allelic heterogeneity

· dominant negative mutation

· gain of function dominant mutation

Question 62

Mutations in the somaticchromosomes may be inherited by the next generation.

Answer

· True

· False


A degenerate PCR primer withmany variant sequences must be used to make multiple copies of agene

Answer

· if only the protein sequence of the gene productis known to construct the primers

· if the DNA you are using is cDNA to constructthe primers

· if the DNA you are using is genomic DNA to becopied

· if the DNA you are trying to copy iscDNA

· if the vector is prokaryotic and the transformedcell is eukarytotic

Question

Please select the best matchfor each term.

Answer

· Restriction enzyme


· PCR C

· Plasmid

· YAC A

· Dideoxynucleotide

Answer

A.

Endonuclease isolated frombacteria

B.

Eukaryotic cloningvector

C.

Method for amplification ofDNA sequences

D.

Small circular fragment ofDNA

E.

Molecule used in DNAsequencing

Question

A couple goes on MauryPovitch, and the results are in: you are not the father. But noother man impregnated the female (granted, unlikely for a MauryPovitch guest, but work with me here) and he must be the father.DNA analysis claims otherwise, though the child definitely wasmom's (poor thing). What may be going on here?

Answer

· the child is parthenogenic because the motheractually impregnated herself like a shark, and the child's DNA isall mom's

· the child had a mutation that changed the genethat is used to trace paternity

· the child is a mosaic because he is actually a setof twins fused early during fetal development, and therefore camefrom 2 eggs and 2 sperm

· the dad may have germ-line mosaicism, meaning thatthe genotype of his sperm is different from his somaticgenotype

· mitochondrial DNA only comes from mom, so there isno way to tell whobthe baby's father is