Chromosomes and Human Inheritance
General instructions:
 Maximize your points by working on questions you know best first. Come back to the others later if you have time
 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.
Mutations:
1) Explain why mutations happen. Make sure to indicate factors which increase or decrease chances of mutations
2) Distinguish between chromosomal and gene mutations (make sure to give examples)
3) Draw diagrams showing types of mutations (EC: Mention any disorders caused by the mutations as you draw them)
4) How are somatic mutations different from gametic (germ line) mutations in terms of location and biological consequences?
5) Why don’t all mutations affecting a genotype change the phenotype?
6) Differentiate between missense and nonsense mutations and give your opinion as to which are worse and why
7) Compare/Contrast aneuploidy and polyploidy
8) Design an experiment to answer the following research question: Which type of mutation causes the worst phenotype disruptions?
Cancer
9) Compare Cancer and benign tumors (differences and similarities)
10) If we get thousands of mutated cells every day, why don’t we cancer more often?
11) Why do some people have greater chances of having cancer?
12) Why is it so hard to cure cancer?
13) Since cancer is so hard to cure, what is the best way handling it?
Common link & divergent think:
14) What do all of the following disorders have in common?
 Down Syndrome
 XYY
 Patau Syndrome
 Trisomy X
 Edward’s Syndrome
 Turner Syndrome
 Klinefelter
15) Which genetic research tool would you use to differentiate between them?
16) How would they compare when the tool was used?
Blood Types
17) What exactly is the difference between people with different blood types?
18) Create a comparison chart to discuss differences between blood types in terms of :
 Names
 Geographic origin
 Antigen
 Genotypes
 Antibodies
 Donate to?
 Wild vs. mutant vs. combination types (including
 Receive from?
order of evolution)
19) Explain why you can only receive blood from or donate blood to certain people
Pedigree
20) Create and interpret a pedigree that shows a dominant autosomal trait (Make sure to explain how it shows that the trait is dominant
and autosomal
21) Create and interpret a pedigree that shows a recessive sex-linked trait (Make sure to explain how it shows that the trait is recessive and
autosomal)
Chromosomes
22) Draw and discuss the features of a standard human karyotype
23) Draw and discuss the structures and features of a typical human a chromosome
Sex Linkage (Use examples and definitions, discuss structural and genetic role differences between the human sex chromosomes and explain
the genetic relationships between them)
24) Shape / Size
25) Gender determination (heterogametic vs homogametic gender)
26) X-inactivation (explanation, chromosomes that interact, and consequence for heterozygous sex-linked traits)
27) Genomic imprinting
28) Hemizigous genes and trait sex-linkage (explain disparity in heredity patterns of sex-linked traits in females and males
Chromosomal Mapping
29) Rank the following maps in order from most to least accurate and justify your choice as you explain how each map works
 Cytogenic maps
 Linkage maps
 Gene sequencing,
 Physical maps.
Linkage:
Differentiate between parental and recombinant phenotypes
Explain why the so-called linked genes exist and how they break Mandel’s rules of independent assortment
Why would genes that should be linked not always segregate together?
Demonstrate how recombination frequencies are calculated
Explain the differences between frequencies of unlinked and linked traits.
Show how you can use combination frequencies between traits to create a map of genetic loci
Why can’t you necessarily place a gene pair that shows recombination frequencies of 50% on different chromosomes
Is there a way to make sure if they do?
Evaluate this statement and justify your answer: the greater the genetic recombination frequency, the greater the chances of linkage.
Extranuclear Genes
39) 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.
Pedigree / Cross Challenge (Graded separately as Bonus points):
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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.