Bio 110

(Diamond)

Mendelian and Human Genetics

INTRODUCTION
Genetics is the study of inheritance. Gregor Mendel deduced that there are units of
inheritance (genes) that exist in different forms and give rise to traits. He figured out the main
inheritance patterns of animals and plants. Mendel died with no one knowing about his work!
Twentieth century geneticists rediscovered Mendel's principles and gave him the credit.
Geneticists also showed that genes are on chromosomes, and chromosomes are
passed from one generation to the next. Molecular biologists determined the chemistry of
genes and how they generate our traits. Meanwhile, population geneticists incorporated
Mendel's principles into concepts of evolution. In this lab you will learn some principles of
Mendelian genetics, and its applications to population genetics and evolution.
This lab Assignment may be turned in as hard copy or on Canvas, as an attached
document, TYPED ONLY, pdf or word. Handwritten assignments may only be turned in as hard
copy. They will not be graded as electronic submissions on Canvas.

PROCEDURES
For all lab work in this class, please complete your assignment on a separate sheet (8" x
10.5"), with questions numbered and lettered correctly, and in correct numerical order. You do
not need to use complete sentences unless a question specifically says to.
Do not combine numbered questions, and please DO NOT WRITE OUT THE QUESTIONS!
Do not write out Steps of the procedure as part of your questions.
If you work some numbered questions out of order, be sure to organize your work into
numerical order before turning it in. You cannot get credit for questions that are out of order!
(For some labs you will be provided with a worksheet. Please complete your Assignment on the
sheet). All original drawings from lab must be attached in the correct numerical place on your
assignment, NOT attached at the end and not copied.
Budget time in your study schedule to complete parts of lab Assignment Questions that
you do not finish in lab, either due to time or because you have to do some additional
reading. Labs are usually due by Friday of the week AFTER the lab, so you do have time to get
help as well as finish the work.
LAB IS A CELL PHONE/SMARTPHONE/IPHONE/ANY-KIND-OF-PHONE FREE PLACE. YOU
MAY NOT USE YOUR PHONE FOR LAB WORK.
Step 1. The class will read the paragraph below, then groups do Question 1.

A trait is an observable characteristic of an organism: flower color, height, bloodtype. A

phenotype is one form of a trait: purple flowers, taller than average height, type A blood.
Genes determine traits, and often are named for the traits. Alleles are specific versions of
genes, so alleles determine phenotypes. A flower color gene may have the form of a purple
allele that determines purple flowers and a white allele that determines white flowers.
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QUESTION 1.
Use either the organisms you made up in the Natural Selection lab or the snowshoe hare you
read about to illustrate the genetics terms: name the gene (same name as the trait), name
the two alleles (same names as phenotypes). Give one name for the gene/trait, and one
name for each of the two alleles/phenotypes.

Step 2. The class will read the next paragraph and then everyone will practice "pronouncing"
alleles (you'll see).
For this class we will all refer to gene letters as "big" when capital and "little" when lower
case. When capital letters have superscripts we just say the letter and the superscript letter, no
"big." The first time gene letters are written in this lab, their "pronunciation" is in parentheses.
Examples: flower color gene with a purple allele F (big ef) and a white allele f (little ef); human
lactase persistence gene (call it milk digestion or dairy gene) with digest/dairy allele D (big D)
and a non-digestion allele (also known as lactose intolerance) d (little d). The ABO bloodtype
gene has three alleles: IA (eye A) for type A blood, IB (eye B) for type B blood, i (little eye) for
type O blood.
Step 3. The class will read the next two paragraphs and then everyone will practice
"pronouncing" genotypes.
A population may include any number of alleles for each gene. When more than two
alleles of a gene have been identified it is called multiple allelism (e.g. ABO bloodtype). Most
animals and plants have two sets of chromosomes in each cell, so they are diploid. Since
genes are on chromosomes, diploids have two copies of each gene (do you know of any
exceptions?). The two "copies" may be the same or different versions of the gene, that is, the
same or different alleles.
When you know which alleles an individual has you can give the genotype. For a gene
with just two alleles, say A and a, there are three possible genotypes for an individual: AA, Aa
or aa. A homozygote has two copies of the same allele: FF and ff are homozygotes for flower
color, DD and dd for milk digestion, IA IA and IB IB and i i for ABO bloodtype. A heterozygote
has different alleles of a given gene. Ff is a heterozygote for flower color, Dd for milk digestion,
IA IB and IA i and IB i for ABO bloodtype. Zygote is the first cell of the embryo, so it is a diploid
made by the joining of sperm and egg.
Step 4. The class will read the next four paragraphs, then groups do Question 2.
A dominant allele determines phenotype in both heterozygotes and homozygotes.
Dominant alleles are usually designated with capital letters. Flowers with either genotype FF or
Ff are purple; DD or Dd people can digest milk; IA IA or IA i people have type A blood. A
recessive allele only determines phenotype in homozygotes.
Recessive alleles are usually designated with lower case letters. Flowers with genotype
f f are white; dd people are lactose intolerant; i i people have type O blood.
Codominant alleles contribute equally to the phenotype, giving a blend of both
phenotypes in heterozygotes. For example, people with genotype IA IB have type AB blood.
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Incompletely dominant alleles give a reduced (diluted) version of the dominant

phenotype in heterozygotes. For example, in snapdragons the flower color gene has red and
white alleles, R and r. R R flowers are red, r r flowers are white, but the red allele has
incomplete dominance, so R r flowers are pink, a diluted form of red.
QUESTION 2.
Decide on a letter for the gene in Question 1; decide which allele is dominant and list the
three genotypes and each of their phenotypes.

Step 5. Each student flip a coin 20 times and record the number of times you get heads on the
board.
Step 6. The class will add the total number of heads and divide by the total number of coin
tosses in the class.

QUESTION 3.
Record the class total number of heads/number of tosses. Record the percent of heads.

Step 7. Pair with another student and each of you flip your own coin 20 times, but this time in
synchrony, and record the pair's outcome for each flip (H-H or H-T/T-H or T-T). Record your
pair's numbers for two-coin outcomes on the board.
Step 8. The class will add the total number of each outcome and divide by the total number
of coin tosses.
QUESTION 4.
Record the class total number of each outcome/number of tosses. Record the percent of
each outcome.
Step 9. The class will read about the rules of probability in the paragraphs below, then discuss
how they relate to your coin flip results and do Question 5.
Probability (p) is the chance that a given event (X) will occur, and is expressed as the number
of times the event occurs divided by the number of trials (opportunities for it to happen). That
is, p(X) = the number of times X happens divided by the total number of trials. You can think of
probability as what you objectively expect to happen.
Product rule (Both/All): The probability that two or more independent events, for example
event A and event B, occur simultaneously is the product of each of their probabilities: p (A
AND B) = p(A) x p(B).
Sum rule (Either/Or): The probability that one of two or more mutually exclusive events, for
example event C or event D, occurs is the sum of each of their probabilities; the probabilities
for all possible outcomes total 1: p(C OR D) = p(C) + p(D).
For example: p(rolling 6) with one die = 1/6; p(rolling double sixes) with two dice = 1/6 x 1/6 =
1/36. But p(rolling 11) with two dice = 1/6 (6 on die A) x 1/6 (5 on die B) = 1/36 OR 1/6 (5 on die
A) x 1/6 (6 on die B) = 1/36, so 1/36 + 1/36 = 1/18.
Bio 110 Genetics 4

QUESTION 5.
a) Using simple fractions, not decimal fractions and not percentages, show how to calculate
the probability for a two-coin-toss H-H outcome:
p(student A gets heads) ____ x p(student B gets heads) ____ = _____
b) Show how to calculate the probability for a two-coin-toss H-T outcome:
p(student A gets heads) ____ x p(student B gets tails) ____ = _____ OR
p(student A gets tails) ____ x p(student B gets heads) ____ = _____
So ____ + _____ = _____
c) Did the class results match the probabilities (expectations)? How close were they: calculate
the percentage difference of each outcome from the expected. (For example, if expected
value is 10% and outcome value is 12%, the percentage difference is (12-10)/10 = 2/10 = 20%
difference—pretty far off!)

Step 10. The class will read the statements below and discuss Mendelian inheritance.
Ø Mendel's first law is the law of segregation, meaning separation: the two copies of each
gene are separated equally into eggs or sperm. (The general term for eggs and sperm is
gametes.) Thus there is an equal chance for either gene copy to be found in any gamete.
Ø In addition, any sperm has an equal chance to join with any egg; that is, the union of
gametes is random.

QUESTION 6.
To show a cross, write parents’ genotypes and/or phenotypes in a line with an x between
them. As an example, write the cross between heterozygous giraffe parents, giving both
genotypes and phenotypes.
Step 11. The class will discuss why two people tossing coins can model Mendelian inheritance
for two heterozygotes, referring to each bullet in step 10.
Step 12. Choose heads for one allele and tails for the other. Pair with another student and
each of you flip your own coin and place them together. Write the genotype of the "baby
giraffe" you make. Repeat this process three more times to make a total of four baby giraffes.

QUESTION 7.
Record your four babies' genotypes and phenotypes.
Step 13. The class will read the statements below.
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Ø A Punnett square predicts offspring of a cross by showing possible gametes and zygotes. It
gives the probabilities of each type of offspring. For example, in the cross F f x F f, the
square makes gametes from each parent, then puts them together:
Eggs Þ F f
FF Ff
Sperm Þ F
f Ff ff

Ø The boxes show the offspring genotypes that result from each type of sperm uniting with
each type of egg. They also show how the rules of probability work in genetics:
Eggs Þ F 1/2 f 1/2
Sperm Þ F 1/2 FF 1/4 Ff 1/4
f 1/2 Ff 1/4 ff 1/4

Ø There is a 1/4 chance that offspring will be f f and white; there is a 3/4 chance that the
offspring will be either F F (1/4) or F f (1/4 + 1/4) and be purple.
Ø The ONLY time you use a Punnett square is when you know parents' genotypes. Otherwise it
is not useful. You can substitute probability calculations for Punnett square and get the
same results faster.

QUESTION 8.
According to probability and the Punnett square, what were the four giraffe babies you were
"supposed to" (expected to) have? Give their genotypes and phenotypes.

Step 14. The class will read the statements below, then work Questions 9 and 10.
Ø Using Mendel's law, an understanding of dominant and recessive alleles, and the rules of
probability, you can solve two types of genetics problems: 1--you can predict the offspring
that will be produced by particular parents; 2--you can deduce parents' genotypes or
phenotypes from their offspring.
Ø When parents’ genotypes are known, the Punnett square can be used to predict offspring
of a cross (or if you are confident about math, the rules of probability will give you the
same result).
Ø To deduce parents from offsprings' phenotypes, remember these two obvious but helpful
points: 1--a kid must get one allele from each parent; 2--a kid cannot get an allele a
parent does not have. As simple as these sound, if you use them you can solve problems
easily.
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Note: The combinations of codominant and recessive alleles in the ABO system make six
different genotypes but four different phenotypes/bloodtypes:
Genotype ABO Blood type
IA IA or IA i type A
IB IB or IB i type B
IA IB type AB
ii type O

QUESTION 9.
a) Maizy has type A blood. With just this information, what do you know for certain about
Maizy's genotype?
b) Maizy had a baby with type O blood. NOW what do you know for certain about Maizy and
her baby's genotypes?
c) Two of Maizy's boyfriends, Matt and Marv, responsible in some ways if not others, each
claim to be the baby’s father. Matt has type B blood and Marv has type AB blood. Can we
determine paternity from ABO bloodtypes? Explain your answer specifically referring to the
guidelines and to ABO genetics.

QUESTION 10.
a) If you have type O blood, what are all the possible pairs of parent bloodtypes that could
have made you (just their bloodtypes/phenotypes, not genotypes)? Explain your answer
specifically referring to the guidelines and to ABO genetics. Do not include reciprocal crosses
(e.g. A x B and B x A are reciprocal crosses).
b) What parent bloodtype and genotype pair can have kids with all four bloodtypes? Use a
Punnett square to show that your answer is correct, and give the probability of each
bloodtype in the kids.

Step 15. The class will read the paragraphs below and preview Question 11.

Ø Sickle cell anemia (sickle cell disease) is a genetic disease characterized by weakness,
pain, eventual organ failure and death if untreated. It is due to defective hemoglobin in
red blood cells, that causes the cells to become brittle and clog up capillaries so oxygen
cannot get to body tissues. An estimated 100,000 people in the United States have
sickle-cell disease. Worldwide, about 300,000 infants are born with the condition each year,
a figure projected to grow to more than 400,000 by 2050. The disorder is most common in
sub-Saharan Africa, where an estimated 70 percent of children with it die before
adulthood.
Ø The normal allele HbA is dominant as far as full-blown sickle-cell anemia. Sickle (S-type)
hemoglobin is caused by a recessive allele HbS. In the general U.S. population 1/50 people
are heterozygotes (HbA HbS), but 1/12 African Americans are heterozygotes.
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QUESTION 11.
a) Read Phelan sections 9.12 and 22.13, page 779 (7.12 and 21.13, page 856-857). What does
the term "pleiotropic" mean?
b) When we say someone is a carrier or is carrying an allele, what does that mean? Explain in
general and use Hb alleles to illustrate the meaning.
c) From your reading in Phelan, explain clearly why African Americans have a much higher
chance of carrying the sickle cell allele. Refer to specific advantages of carrying the allele in
parts of the world such as Africa.
d) Use the probability rules to calculate the chance of a child from the population overall
being born with sickle cell anemia. Show and explain your calculation.
e) Use the probability rules to calculate the chance of a child from an African American
couple being born with sickle cell anemia. Show and explain your calculation.

Step 16. The class will read the statements below and then work Questions 12 and 13.
Ø Using Mendelian principles and Punnett square probabilities, you can consider inheritance
in a whole population rather than just individuals. (Punnett worked this out with Hardy over
100 years ago).
Ø The idea of population genetics is that everyone in a population contributes their gametes
(eggs and sperm), and therefore their alleles, to a giant pot (this is the gene pool). The
Ø relative amount of each allele is its proportion in the population (this is allele frequency).
Ø To make offspring you reach into the pot and pull out two alleles (equivalent to one egg
plus one sperm). Of course this assumes that all mating is random, that is, everyone has an
equal chance to mate with everyone else.
Ø The Punnett square can represent the population just as easily as an individual, but with
allele frequencies for the population, instead of gamete probabilities for a single individual
with a certain genotype.
Ø For example, if the allele frequency of F is 60% (0.6) and the allele frequency of f is 40%
(0.4), you will get the following Punnett square for the population:

Eggs Þ 0.6 F 0.4 f

Sperm Þ 0.6 F 0.36 FF 0.24 Ff
0.4 f 0.24 Ff 0.16 ff

Ø This means that every generation 36% of the flowers will be FF, 48% Ff and 16% ff, giving 84%
purple flowers and 16% white (which are phenotype frequences, or what I call in lecture
"population character").
Ø Notice the difference between allele frequencies and phenotype frequencies.
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QUESTION 12.
a) Give a definition of "gene pool."
b) Which term refers to an individual, genotype or gene pool?
c) Give a definition of "allele frequency."
d) In which ONE of the following pairs are the two terms closest to meaning/representing the
same thing: allele frequency and genotype frequency OR phenotype frequency and
population character OR population character and genotype frequency OR allele frequency
and population character?
e) To study evolution, population geneticists follow allele frequencies. In class we have been
following population character. Consider the following statements:
A particular population's character is 1/100 people have blurper syndrome.
In a particular population, the frequency of the blurper allele is 1/10.
Which of the two statements more easily gives you a picture of the population? Explain your
answer clearly.

QUESTION 13.
Cystic fibrosis is the most common fatal genetic disease in the U.S.; see Phelan 4.6 (3.6). In
cystic fibrosis the lungs are filled with thick mucus and dangerous bacterial infections often
cause early death. Cystic fibrosis occurs in about one out of 2500 people with European
ancestry.
Complete a Punnett square as shown (F is the normal allele, f cystic fibrosis allele). Work
backwards using the probability rules to calculate the allele frequencies of F and f.
Calculate the genotype frequencies of FF and Ff. Use fractions for allele and genotype
frequencies.

F _____ f ____

F FF Ff

Ff ff
f
1/2500
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Step 17. The class will read the statements below and work Question 14 as time permits.
Complete Questions 14 and 15 as homework.

Ø PKU is a genetic disease characterized by intellectual disability and seizures (due to a

defective metabolic enzyme).
Ø Before the days of modern medicine and nutritional biochemistry, people with PKU
either died or were institutionalized in poor health for life.
Ø Since the 1960's all newborns in most countries are tested at birth for PKU. Because they
have been protected by their mothers' metabolism, PKU babies are normal at birth, and
if given a special diet they do not develop the severe neurological problems.
Ø Why didn't natural selection eliminate PKU before modern times? If no one with PKU had
children, why is it still present in the world?
Ø Population genetics shows us how a recessive allele may be maintained in a population
at a low frequency, even if homozygotes do not survive.

QUESTION 14.
The normal allele P is dominant. PKU is caused by a recessive allele p. One baby in 10,000 has
PKU (all ethnic backgrounds).
a) Complete a Punnett square as shown (P is the normal allele, p PKU allele). Work backwards
using the probability rules to calculate the allele frequencies of P and p.
Calculate the genotype frequencies of PP and Pp. Use fractions for allele and genotype
frequencies.

P _____ p ____

P PP Pp

Pp pp
p 1/10,000

b) Round each genotype frequency to express it as a whole percent. What do you notice
about the frequency of pp?
c) To show how even lethal recessive alleles can stay in populations over the generations,
assume the one person with PKU in a population of 10,000 people dies without having children.
Use your numerators for frequencies of PP and Pp, and recalculate the frequencies of PP and
Pp genotypes in a population of 9999 individuals (no pp) as whole percents. Do you see that,
as long as there are Pp individuals, there will always be pp babies born in the population, even
if all pp babies die?

QUESTION 15.
It is estimated that each of us carries several recessive alleles for genetic diseases. Explain
clearly why it is better to have children with an unrelated person rather than with a cousin. Be
specific about the risks of having children with genetic diseases in each case.