Chromosomes and Human Inheritance
General instructions:
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Maximize your points by working on questions you know best first. Come back to the others later if you have time
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Remember to use as much detail, examples, and science/biology vocabulary as possible when formulating your answer. For example, if the question
asks you differentiate between two concepts do so by defining them, explaining them, and giving an example of each. Also consider discussing
similarities and any possible interaction between the concepts.
1. Mutations:
I. Draw diagrams showing types of mutation (EC: Mention any disorders caused by the mutations as you draw them)
II. Distinguish between chromosomal and gene mutations (make sure to give examples)
III. Design an experiment to answer the following research question: Which type of mutation causes the worst phenotype disruptions?2/ 2.
IV. How are somatic mutations different from germ line mutations in terms of location and biological consequences?
V. Why don’t all mutations affecting a genotype change the phenotype?
2. Common link & divergent think:
I.
What do all of the following disorders have in common?
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Down Syndrome
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Patau Syndrome
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Edward’s Syndrome
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Klinefelter
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XYY
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Trisomy X
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Turner Syndrome
II. Which genetic research tool would you use to differentiate between them?
III. How would they compare when the tool was used?
3. Blood Types
I. Compare blood types in terms of wild and mutant types
II. Discuss geographic origin of mutant blood types
III. Compare blood types in terms of antigens/antibodies
IV. Explain why each can only donate to and receive from certain others.
4. Pedigree
I. Create and interpret a pedigree that shows a dominant autosomal trait (explain why it does so)
II. Create and interpret a pedigree that shows a recessive sex-linked trait (explain why it does so)
5. Compare/Contrast aneuploidy and polyploidy
6. Using examples and definitions, discuss structural and genetic role differences between the human sex chromosomes and explain the genetic relationships
between them including:
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Shape / Size
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Gender determination (heterogametic vs homogametic gender)
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X-inactivation (explanation, chromosomes that interact, and consequence for heterozygous sex-linked traits)
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Hemizigous genes and trait sex-linkage (explain disparity in heredity patterns of sex-linked traits in females and males)
7. Draw and discuss the features of a standard human karyotype
8. Draw and discuss the features of human a chromosome
9. Rank the following maps in order from most to least accurate and justify your choice as you explain how each map works+
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Cytogenic maps
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Linkage maps
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Gene sequencing,
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Physical maps.
10. Linkage:
I. Differentiate between parental and recombinant phenotypes
II. Explain why the so-called linked genes exist and how they break Mandels rules of independent assortment
III. Why would genes that should be linked not always segregate together?
IV. How can you use combination frequencies between traits to create a map?
11. Some genes are not inherited through chromosomes. Identify such an exception, explain why such genes do not follow the chromosomal theory of
inheritance, and discuss implications of it for Biological history.
12. Mickey has two brothers: one who shares his genotype and a brother who does not. Their father only has dominant genes. Their mother cannot receive
blood from Mickey or his brothers. The brother who shares his genotype married someone who can only receive blood from people who share her blood
type. This brother also gave Mickey two nephews. One nephew has the most recently-evolved mutant blood type. People say the other one looks a lot
more like their mother, than their father. In terms of blood type, they are right. Mickey married Minnie who no longer has any living family members, but
can donate blood to Mickey’s single brother. She can also receive blood from him. Minnie and Mickey had a child who can donate blood to their
grandfather, but not to their father. Minnie gets pregnant again. They know the new baby could never be “just like grandma” like everyone says it ought to
be and Minnie has a feeling that this baby is going to be different from his brother. Her maternal instinct should be trusted, since unlike his brother, he can
donate blood to one of his uncles. What are the blood types of each family member and who can donate blood to whom?
(1) Mickey’s father?
(6) Mickey’s other nephew
(2) Mickey’s mother?
(7) Mickey’s single brother?
(3) Mickey’s married brother?
(8) Mickey?
(4) Mickey’s sister in law?
(9) Minnie?
(5) Mickey’s nephew that looks like his mother
(10) The new baby?
EC. Discuss any of the disorders learned in class. For each, list genetic causes, heredity relationships between alleles, and symptoms/prognosis.