Ch. 14 Human Heredity Human Chromosomes & Gender

Interesting note: Human heredity research began as a statistical science in 19th century insane asylums!

ReviewIdentify the figure at right.Describe how this diagnostic tool is produced from how the chromosomes are obtained to their arrangement.Identify (label) all that you can in this figure.List all of the information that can be obtained by analyzing this?

The top and side of the Punnett square below is a representation of what event (principle) during what process, to produce what?

Refer to this Punnett square to explain why the female/male ratio is roughly 1:1.

List the symbols used to represent the chromosomes carried by possible oocytes, spermatozoa and zygotes, or use these symbols in your previous explanation.

Ch. 14 Human Heredity Human Traits (Pedigree)A circle representsa female.A horizontal line

connecting a male and a female represents a marriage.

A shaded circle or square indicates that a person expresses the trait.

A square representsa male.

A vertical line and a bracket connect the parents to their children.

A circle or square that is not shaded indicates that a person does not express the trait.

ReviewWhat must biologists establish and be able to do in order to study Mendelian genetics in humans?

What does a pedigree chart show and how can it be used?

Analyze this pedigree and determine how this character is inherited. Show your analysis by labeling each individual with genotype symbols.

What method of shading (not shown) is often used in a pedigree to represent heterozygotes?

Ch. 14 Human Heredity Human Traits (Polygenic)

ReviewHow are most human characters controlled?Define polygenic.

What are some examples of human polygenic characters?

Other than genes, what else influences human characters?

Explain how skin color is an example of both.

Refer to the diagram to explain how polygenic inheritance typically exhibits a quantitative or additive affect and Normal distribution.

Ch. 14 Human Heredity The Human Genome

When did the Human Genome Project begin and what was the goal?

How was it conducted and by whom?

When did it end and what was discovered?

Who is this information available to and how is it being used?

How has sequencing technology progressed?

What new branches of biology have resulted from this?

How many other species have been sequenced and why?

Ch. 14 Human Heredity Human Genes: ABO Blood Type

ReviewHow are the ABO blood types inherited? Define multiple alleles and codominance.

Explain and show in a Punnett square how there are two genotypes for bood types A and B, but only one for types AB and O. Can one person have all three alleles? Why?

Explain why, at the cellular/mollecular level, blood type O is the universal donor and type AB is the universal receiver. Hint: It involves the immune system.

Ch. 14 Human Heredity Human Genes: Rh Blood Type

How are the Rh blood types inherited?

Combined with ABO blood groups, how many blood types are there?

This figure illustrates Rh disease in babies (erythroblastosis fetalis). Write a short, descriptive caption for each step.

Explain the cause, mechanism, possible result, and treatment.

Ch. 14 Human Heredity

Ch. 14 Human Heredity Human Genes: Autosomal Recessives

How are these genetic disorders inherited and what is the significance of this?Study the symptoms of each disorder and the additional figures. Identify and explain the common, fundimental underlying cause of all four, as well as all other genetic disorders.

Ch. 14 Human Heredity From Gene to Molecule

From the disorders listed on the previous slide, identify (title) the disorder these diagrams represent.

At the nucleotide level, what is the mutation in the CFTR allele that causes the disorder?

Identify (label) on the top diagram the product of the CFTR gene. Identify (label) what the components “Ile, Phe, Gly and Val” represent. What is the result of the CFTR mutation in the product molecule?

Identify (label) the entire yellow structure in the bottom diagram. Find and circle the portion of the molecule that relates to the top diagram. How does this part of the molecule appear to function?

Explain how the change resulting from mutation of the CFTR gene effects the function of the entire molecule and produce the disorder?

Ch. 14 Human Heredity Human Genes (Autosomal Dominants)

What do these dominant genetic disorders have in common with recessive disorders?

Explain why it is surprising that some genetic disorders are inherited as dominants.

What allows these disorders to persist in the human gene pool?

If they are dominant, why don’t more people have these disorders. Could you be carrying the allele for achondroplasia? Why are we not all dwarfs?

Ch. 14 Human Heredity From Gene to Protein

What is the function of the blood protein hemoglobin? Where in blood is hemoglobin found? Describe its molecular structure.

What kind of mutation results in the allele that causes sickle cell disease? Is the mutated allele dominant or recessive?

What is the effect on the hemoglobin made from this allele?

What is the effect on red blood cells that carry the defective hemoglobin?

What effect does this have on a person with the disease?

Ch. 14 Human Heredity Human Genes (Codominance)

Is sickle cell disease dominantor recessive?

People from what line of descentor country of origin are most susceptible?What is the incidence or frequency of the diseasein that population?

Explain how the phenotypes of each possible genotype is evidence of codominance.

Explain the relationship between this disease and malaria in terms of natural selection.

Define heterozygote advantage.

Ch. 14 Human Heredity Sex-Linked Genes

Duchenne muscular dystrophy

X Chromosome

Melanoma

X-inactivation center

X-linked severe combined immunodeficiency (SCID)

Colorblindness

Hemophilia

Y Chromosome

Testis-determiningfactor

Review: What is the function of the X and Y chromosomes? What is a sex-linked gene?

How many sex-linked disorders have been found?

How does the Y chromosome compare to the X chromosome? Are they homologous? Do they recombine (cross-over) at all? Review: When does recombination happen?

Ch. 14 Human Heredity Sex-Linked Genes

How many genes associated with color vision are onthe X chromosome?

What is the result of mutation in any one ofthese genes?

Refer to this Punnett square to explainWhich gender is more likely toexpress sex-linked traits and why?

Define carrier.

Ch. 14 Human Heredity Sex-Linked Genes

Analyze this pedigree of the European royals. How is this trait inherited and how do you know? Define hemophilia including the genes and proteins involved.

With whom did hemophilia in the royal families begin? How?

What perpetuated the disease in the Prussian, Russian and Spanish royal houses?

How many males with hemophilia had offspring? Why?

Ch. 14 Human Heredity Sex-Linked Genes

How is Duchenne muscular dystrophy inherited?

What is the cause, from gene to the function of the defective protein?

What are the symptoms?

Ch. 14 Human Heredity X-Chromosome Inactivation

Review: How many X chromosomes do females have vs. males?

If all genes were expressed, what difference would this make between males and females at the molecular level?

Define X-inactivation.

Who discovered X-inactivation?

Why does X-inactivation not take place in males?

Define Barr bodies. Identify (label) the Barr bodies in the figure at right, alongWith anything else you can identify.How might this be useful in a crimescene investigation?

Explain how calico coloration in cats(top photo) is the result ofX-inactivation.

What does this mean for human females?

Ch. 14 Human Heredity Chromosomal Mutations of Number

Homologous chromosomes fail to separate.

Meiosis I:Nondisjunction

Meiosis II

Translate and define genetic nondisjunction. When and how does it occur?

What is the result of nondisjunction during meiosis 1 for gametes? (As shown here.)

What is the difference if nondisjunction happens during meiosis II?

What is the result of nondisjunction for individuals created from affected gametes? (most vs. some)

Define monosomy.Define trisomy.Identify (label) the gametes that will produce a monosomic or trisomic zygote.

Does nondisjunction result in only one disorder? What does it depend on?

Review: What is the other general type of chromosomal mutation?

What procedure or test can be used to diagnose these conditions?

Ch. 14 Human Heredity Autosomal Mutations of Number

Identify (label) the figure shown at right?

Analyze the figure… is this a male or female? Describe the diagnosis of this individual using terms from the previous slide. Review: What causes this disorder?

What is this disorder called and why?

What are the primary symptoms?

Ch. 14 Human Heredity Sex Chromosome Mutations of Number

Analyze the karyotype above… is this a male or female? Why? Describe the diagnosis of this individual using proper terms. Review: What causes this disorder?

What is this disorder called and why?

What are the primary symptoms?

Analyze the karyotype above… is this a male or female? Why? Describe the diagnosis of this individual using proper terms. Review: What causes this disorder?

What is this disorder called and why?

What are the primary symptoms?

Are there other such disorders? (CLICK)

Ch. 14 Human Heredity Human DNA Analysis

Identify (label) what the top and bottom cylinders in this diagram represent. How can DNA samples be obtained?

Review: What are genes?

What are repeats?

Compare and contrast these samples. What is the same? What is different? What is the point?

How does this relate to DNA fingerprinting and genetic testing?

Ch. 14 Human Heredity Human DNA Analysis

Identify (label) these samples as you did previously.

Identify (label) the first shaded oval that has a pointer line (top left). Do all the shaded ovals represent exactly the same thing? Label all of them by writing “EcoR1” inside them. What is EcoR1? Identify (label) what the red dotted lines represent? (Label only the top left one.)

Compare and contrast the two samples. What is the same? What is different?

What does the acronym RFLP stand for and how does it relate to this example?

These differences can not be seen with the naked eye or microscope? How must they be analyzed for comparison?

Ch. 14 Human Heredity

Ch. 14 Human Heredity Human DNA Analysis

Identify (title) the procedure this diagram represents. What does this apparatus do (in general)?

What is the agarose gel? Label the far right well on the gel. Label the wells of the lanes to show how they correspond to the sample diagrams on previous slides. Identify (label) what the red and black positive and negative circles represent?

Briefly describe how this analysis is performed and how/why it works. Compare and contrast this analytical technique to the paper chromatography you performed with leaf pigments.

What do we call the pattern of bands in each lane?

The image below shows actual results, including a lane with DNA evidence collected from a crime scene. Based on these results, which suspect committed the crime? How do you know?

Ch. 14 Human Heredity Gene Therapy

Define gene therapy.

What does gene therapy correct?

Study the diagram. What disease does this gene therapy treat?

Define vector. What is the vector in this example? Why?

Describe the procedure shown in the diagram, step by step.

Ch. 14 Human Heredity Gene Therapy

Since the textbook was published, a new technique for gene therapy has been discovered. Briefly, what is the CRISPR/Cas9 system and what can it do?

Define “in vivo” and “ex vivo”. Compare and contrast the in vivo vs. ex vivo methods for using CRISPR shown.