CAM101 Lecture Notes - Lecture 11: Color Blindness, Genetic Disorder, Water–Electrolyte Imbalance

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jademoose588

8 Jun 2018

School

University of Tasmania

Department

CAM

Course

CAM101

Professor

Kate Moore

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Learning Objectives

• To understand the basic principles of genetics, including:

• Dominant and recessive inheritance

• Sex linked inheritance

• Complex/polygene inheritances

• To relate the basic principles of genetics to the inheritance of human traits

Genetic Variation

Recombination

Exchange of chromosome parts during meiosis I

Independent Assortment of Chromosomes

~8.5 million (223) different gametes can potentially result from the independent assortment of

homologous chromosomes

Random Fertilisation of Egg by Sperm

• Born with ~1 million eggs

• 100 million sperm/mL

Allele

• Each chromosome contains many genes

• Each gene occupies a defined position on a specific chromosome (locus)

• Any two matched genes at the same locus are called alleles

• One is maternal and other paternal

• Code for the same (homozygous) or alternate (heterozygous) forms of a given trait

• Versions of the same gene (one paternal one maternal)

• Homozygous - identical alleles

• Heterozygous - different alleles

Genotype and Phenotype

Genotype

Sequence of DNA

Phenotype

Physical manifestation of the genotype (measurable trait/observation)

Pedigrees

Genetic representation of a family tree which details inheritance patterns for a particular

disease/phenotype. Inheritance of a trait depicted via family tree.

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Mendelian Inheritance

Mendelian Traits

• Single gene

• Clear pattern of inheritance

• Complete penetrance

Law of Segregation

Allele pairs segregate during gamete formation so each gamete only carries one allele for each gene.

i. A gene can exist in more than one form

ii. Two alleles are inherited for each trait

Law of Independent Assortment

Genes for different traits segregate independently in gamete formation

Law of Dominance

If one dominant allele is present, the phenotype will express dominant allele

Types of Inheritance

Autosomal Dominant

• Dominant allele is visible even if paired with a recessive allele

• Heterozygous with one copy of the dominant allele are affected

• AA and Aa genotypes = same phenotype

If variant/mutant gene copy (A) results in increased function or gain of a deleterious function, then

only one copy is needed to generate disease phenotype e.g. Huntington’s disease

Autosomal Recessive

• A recessive allele is only visible when paired with another recessive allele

• Homozygotes with two copies of the recessive allele are affected

• Different example genotypes

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• Aa = Carrier

• aa = affected

If variant or mutant gene copy (a) represents a loss of activity, need BOTH mutant alleles to generate

disease phenotype (aa) (e.g. cystic fibrosis, loss of function)

Mendelian Inheritance

Punnet square with 2 heterozygous parents

Potential offspring genotypes: ¼ BB, ½ Bb, ¼ bb

Co-Dominance

• Contribution of both alleles is visible in phenotype

• Eg. ABO blood grouping is determined by 3 alleles, A, B and O

• A and B are co-dominant and produce different surface proteins

• O produces no protein

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Related Questions

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 Jrâs 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.

âFitnessâ in an evolutionary sense, refers to an individualâs:

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 Darwinâs Four Postulates] (PDF1-3).

27. Who was Thomas Malthus? In what way(s) Malthus was influential for Darwinâs 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.

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.

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.

	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

	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.

CAM101 Lecture Notes - Lecture 11: Color Blindness, Genetic Disorder, Water–Electrolyte Imbalance

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