PCB 3063 Chapter Notes - Chapter 18: Missense Mutation, Frameshift Mutation, Nonsense Mutation

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orchidbeaver616

26 Apr 2016

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Scope of mutations: gene mutations: affect a single gene, chromosome mutations: affect number or structure of chromosomes, mutations can be used to learn about biological processes. Types: somatic: somatic tissues; passed to daughter cells (mitosis) within an organism) Form a clone of the original mutated cell; 1 per million cells; no observable phenotype change. Totally causes ~cancer: germ-line: cells that will give rise to gametes; will be passed to future generations. Transition: purine to another purine or pyrimidine to another pyrimidine. Transversions: purine replaced by pyrimidine or vice versa (a or g) (c or t) and (c or t) (a or g: insertions/deletions: addition or removal of one of more nucleotides. Can lead to frameshift mutations: changes in the reading frame of the gene; usually alter all amino acids after shift and can drastically change the phenotype. # of extra copies often correlates with the severity and onset age of the disease in question.

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QuestionGroup: #21 Gene expression 2

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The direct end result of gene expression is which of the following?

Amino acids

Translation

Proteins

Carbohydrates

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QuestionGroup: #22 Mutation

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Which of the following is the ways in which nucleotide mutations lead to altered proteins?

One nucleotide is substituted by another nucleotide, which can cause an early stop codon to be incorporated into the amino acid sequence resulting in a truncated protein.

One nucleotide is replaced by another nucleotide, which can change an amino acid in the protein sequence

Nucleotides are inserted into a nucleotide sequence causing a frameshift in the sequence.

All three choices may cause mutations.

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QuestionGroup: #23 Mutation 2

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Mutations are the result of which of the following?

Change in the normal nucleotide sequence in the DNA directly resulting in different carbohydrates

Change in the normal nucleotide sequence in the DNA directly resulting in different proteins

Change in the order of transfer RNA to messenger RNA so that the transfer RNA take over the role of Messenger RNA

Primarily an alteration in the sequence of nucleotides in the abnormal proteins

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QuestionGroup: #24 Cell division

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There are two major kinds of cell division. Which of the following plays a major role in promoting genetic diversity?

Meiosis since it causes the cells to make more daughter cells than mitosis

Mitosis since it causes the cells to duplicate and eventually have mutations

Meiosis since it causes the DNA sequences to be separated into new patterns in the daughter cells.

Mitosis since it essential for the ovaries in humans to separate and duplicate

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QuestionGroup: #25 Cancer

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Genes that slow down or stop the cell cycle are called...

Apoptotic genes

Oncogenes

Restriction genes

Tumor suppressor genes

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QuestionGroup: #26 Cancer2

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The common theme in the development of all cancers is...

Mutation

Evolution

Infection

Syncopation

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QuestionGroup: #27 Genetics

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Punnett's square is which of the following?

Example of all possible combinations of alleles

Example of all possible combinations of chromosomes

Example of only certain combination of alleles since some will not be expressed.

Example of all possible combinations of DNA

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QuestionGroup: #28 Embryo development

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Which of the following is the end of the cleavage phase?

A fetus

Formation of a blastocyst

Implantation to the lining of the uterus

Fewer number of cells

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QuestionGroup: #29 Development of organ system

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For organs to be differentiated, which of the following is the first step?

Stem cells trigger the development of differentiated cells

Tissues assemble into organ systems such as blood

Tissue specific genes in stem cells are triggered

Differentiated cells form tissues

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QuestionGroup: #30 Development and society

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A pregnant mother ingests a chemical which her mother said would be great for the baby. When the baby was born, it had a large head and flippers for arms. What caused this phenotype?

The chemicals were teratogens which influenced oxidative phosphorylation causing the changes in the phenotype.

The chemicals influenced the expression of different stem cells.

There is no way to assume the chemicals caused the phenotype since we have no data on other mothers who took this medicine. It could have been purely by chance.

The chemicals were teratogens which caused the baby to show early signs of evolution.

What is a genome? What is a genome made of? Describe the bacterial genome. How do bacteria reproduce? What is binary fission? Distinguish between a chromosome and chromatin. Where are chromosomes located in eukaryotic cells? What is the chromosome made of? What is a centromere? What is the centromere's role? What are sister chromatids and how do they arise? Distinguish between somatic cells and germ (gametes) cells. Describe the cell cycle. What are the different phases? What occurs during S phase? What is interphase? How is the cell cycle controlled?

Describe mitosis. What are the phases of mitosis? What occurs in each of the phases of mitosis? What is cytokinesis? How does this differ between plant and animal cells? What is a kinetochore? Where does it form? What is its role? What is the role of microtubules in mitosis? What is a centriole and what is it composed of? What is a centrosome and what is its role in mitosis? What is the metaphase plate and why is this important? What is the mitotic spindle, its role and its makeup? What defines a diploid cell? How many copies of each chromosome is in a diploid cell? What about a haploid cell? Why do the daughter cells of mitosis always have the same complement of chromosomes?

Describe meiosis. What are the phases of meiosis? What occurs in each of the phases of meiosis? Distinguish between meiosis I and meiosis II and describe how each of these processes compare to mitosis. Why do animal cells undergo meiosis? What is a gamete? What is a zygote? What are recombination, crossing-over, and chiasma? When and why does this occur? What is meant by 'homologous pair of chromosomes'? Why don't the daughter cells of meiosis have the same genetic makeup? What controls the segregation of chromosomes into the gametes?

What are genetic characters? What are genetic traits? What is an allele? What is a locus? How many alleles at each locus would a human cell have and why? Distinguish between genotype and phenotype. What is meant by a dominant gene? What is meant by a recessive gene? How do these differ? What is the genotype of a homozygous dominant organism? What is its phenotype? What is the genotype of a homozygous recessive organism? What is its phenotype? What is the genotype of a heterozygous organism? What is its phenotype? What is a genetic cross? Distinguish between the P, F1, and F2 generations. What is a true-breeding line? What is the genotype and phenotype of a cross between homozygous dominant and homozygous recessive parents? If the F1 progeny are crossed, what would be the genotype and phenotype of the F2 generation? What would be the phenotypic ratio? What would be the genotypic ratio? Be ready to generate Punnet square tests or probability analyses of crosses involving more than one genetic locus. Describe a dihybrid cross where two alleles are homozygous dominant in one parent and homozygous recessive in the other. What would be the phenotypic ratio of the F2 generation from this dihybrid cross? What is meant by independent assortment? Be prepared to calculate probabilities resulting from different crosses.

Distinguish between complete and incomplete dominance. How would incomplete dominance alter the results of a hybrid cross? What would the resulting F2 generation phenotype and genotype ratios be? What is codominance? How does this affect the results of crosses? Be prepared to determine likely blood types of parents based on the blood types of their offspring. What is a polygenic trait? What is a carrier state for a genetic disease? What is meant by linked genes? How does this affect expected outcomes of genetic crosses? How is gene linkage used for chromosomal mapping? Distinguish between autosomes and sex chromosomes. What sex chromosomes are found in women? What sex chromosomes are found in men? What are sex-linked traits? Be prepared to give the results of crosses that involve sex-linked recessive traits. What is the process of nondisjunction? What are the likely results? Why is this important? What is a Barr body? Recognize the genetic abnormality of Downs Syndrome, Turner's Syndrome, and Klinefelter's Syndrome.

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If an organismâs diploid chromosome number is 18, how many different possible combinations of homologous chromosomes lining up during meiosis exist for the eggs or sperm produced by that organism?

	A.	512
	B.	9
	C.	18
	D.	128
	E.	36

At the end of metaphase I, _______________ separate.

	A.	sister chromatids
	B.	germ cells
	C.	homologous chromosomes
	D.	haploid chromatids
	E.	centrioles

Mendel observed that dominant traits

	A.	are seen in all of the F1 hybrid pea plants in his experiments.
	B.	are expressed in all plants.
	C.	were absent in the F1 generation of pea plants that he used in his experiments.
	D.	were the only traits seen in the F2 generation of pea plants in his experiments.
	E.	are only expressed in hybrids.

Cytokinesis in plant cells differs from cytokinesis in animal cells because

	A.	there is no difference.
	B.	in plant cells, the cell plate must also divide into two parts.
	C.	the contractile protein, actin, is important only in plant cells.
	D.	plant cells have a rigid cell wall.
	E.	a contractile ring forms only in plant cells.

Sickle cell anemia is an example of what type of inheritance?

	A.	complete dominance
	B.	incomplete dominance
	C.	codominance
	D.	multiple alleles
	E.	recessive dominance

Which of the following statements is true:

	A.	The dominant allele is masked in homozygous dominant individuals.
	B.	With recessive genetic disorders, if both parents are carriers, the offspring will all be affected.
	C.	In carriers, the recessive allele causes an intermediate phenotype.
	D.	In recessive genetic disorders, the mother and/or father of an affected individual must also be affected.
	E.	With dominant genetic disorders, the mother and/or father of an affected individual must also be affected.

Skin cancers typically develop in the

	A.	upper layers of the epidermis.
	B.	lower layers of the dermis.
	C.	subcutaneous layer.
	D.	lower layers of the epidermis.
	E.	upper layers of the dermis.

Duchenne muscular dystrophy (MD) is inherited from an X-linked recessive allele. What is the probability that a son with Duchenne MD inherited this disease from his biological father?

	A.	1/2
	B.	0
	C.	1/16
	D.	1/4
	E.	1/8

The genetic makeup of a particular trait in an individual is its

	A.	genotype.
	B.	heterozygosity.
	C.	phenotype.
	D.	filial.
	E.	dominance.

What structure holds the sister chromatids to the spindle fibers?

	A.	chromatin
	B.	kinetochore
	C.	MPF
	D.	centromere
	E.	cyclin

If you view a cell in which the genetic material is beginning to be visible as separate bodies, and the nucleus has disappeared from view, you may surmise that the cells is in

	A.	telophase.
	B.	anaphase.
	C.	interphase.
	D.	metaphase.
	E.	prophase.

Gregor Mendel was successful in his analysis of the genetics of pea plants because

	A.	he examined and analyzed both the F1 and F2 generations.
	B.	he studied the parental plants to determine their differences.
	C.	he decided to only look at his results in an objective manner.
	D.	he studied a trait that had a strange inheritance pattern.
	E.	pea plants have genetics different from other organisms.

Tall corn plants (T) are dominant to dwarf plants (tt). Solid green leaves (G) are dominant to leaves with a white tip (gg). A cross between two corn plants yielded the following phenotypes: 51 tall plants with a white tip on their leaves; 43 dwarf plants with solid leaves; 48 dwarf plants with white tips on their leaves; 45 tall plants with solid leaves. What are the genotypes of the parents that produced these plants?

	A.	None of the above
	B.	TtGg x Ttgg
	C.	ttGG x TTgg
	D.	TtGg x TtGg
	E.	TtGg x ttgg

In humans, a gene that has been identified as causing a type of skin cancer is the

	A.	superwoman echidna.
	B.	mutant superman.
	C.	sonic hedgehog.
	D.	mutant mole rat.
	E.	superhero aardvark.

The segregation principle states that in sexually reproducing diploid organisms the two copies of each gene

	A.	segregate from each other during meiosis.
	B.	must always be the same allele.
	C.	separate from each other during mitosis.
	D.	will both wind up in either the sperm or egg.
	E.	move together as a unit during meiosis.

In what phases is the genetic material in the cell correctly referred to as chromatids?

	A.	metaphase and telophase
	B.	anaphase and metaphase
	C.	interphase and telophase
	D.	interphase and prophase
	E.	metaphase and prophase

Consider two traits for an organism, determined by two genes, each of which is governed by at least two alleles. In the case of a dihybrid individual, the gametes formed will be of either the parental type or the recombinant type. Recombinant type gametes are formed because of

	A.	the principle of dihybrids.
	B.	multiple alleles.
	C.	heterozygosity.
	D.	incomplete dominance.
	E.	independent assortment.

An allele is

	A.	an alternate form of a gene.
	B.	always recessive.
	C.	the main factor determining a trait.
	D.	always one of a pair.
	E.	the dominant form of a gene.

After the DNA is replicated, and it condenses in prophase, two identical rods of DNA are seen. These are

	A.	spindle fibers.
	B.	kinetochores.
	C.	chromatids.
	D.	chromatin.
	E.	centromeres.

Special cells found in the gonads that give rise to gametes upon division are called

	A.	egg cells.
	B.	somatic cells.
	C.	germ cells.
	D.	stem cells.
	E.	basal cells.

PCB 3063 Chapter Notes - Chapter 18: Missense Mutation, Frameshift Mutation, Nonsense Mutation

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