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Contents
1. Scientific Method: The Process of Science 1
2. Measurements in Biology: The Metric System and Data Analysis 11
3. The Microscope: Basic Skills of Light Microscopy 21
4. Mitosis and Meiosis 33
5. Mendelian Genetics 53
6. Human Genetics 69
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Credits
1. Scientific Method: The Process of Science: Chapter 1 from Biology Laboratory Manual, Ninth Edition by Vodopich,
Moore, 2011 1
2. Measurements in Biology: The Metric System and Data Analysis: Chapter 2 from Biology Laboratory Manual,
Ninth Edition by Vodopich, Moore, 2011 11
3. The Microscope: Basic Skills of Light Microscopy: Chapter 3 from Biology Laboratory Manual, Ninth Edition by
Vodopich, Moore, 2011 21
4. Mitosis and Meiosis: Chapter 8 from Laboratory Manual to accompany Biology, Tenth Edition by Mader, 2010 33
5. Mendelian Genetics: Chapter 9 from Laboratory Manual to accompany Biology, Tenth Edition by Mader, 2010 53
6. Human Genetics: Chapter 10 from Laboratory Manual to accompany Biology, Tenth Edition by Mader, 2010 69
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exercise one
Scientific Method
The Process of Science
Objectives
By the end of this exercise you should be able to:
1.
Define science and understand the logic and sequence of the scientific method.
2.
Develop productive observations, questions, and
hypotheses about the natural world.
3.
Calculate the range, mean, and standard deviation for a set of replicate measurements.
4.
Design and conduct a controlled experiment to
test a null hypothesis.
5.
Understand the difference between a hypothesis
and a scientific theory.
he word science brings to mind different things to different students. To some students, science is a textbook. To
others, its a microscope, a dissected frog, or a course that
you take. In fact, science is none of those. Some definitions
are more useful than others, but for biological research a
good definition of science is the orderly process of posing and
answering questions about the natural world through repeated
and unbiased experiments and observations. This definition
emphasizes that science is a process rather than a book,
course, or list of facts. Science is not a thing. Its a way of
thinking about and doing thingsa way of learning and
knowing about the natural world (fig. 1.1).
Our definition also emphasizes that people do science
by asking questions and then doing experiments to answer
those questions. Questions and curiosity are part of human
nature, and science is a human activity. Like any human
task, it takes practice to do science effectively.
Finally, our definition emphasizes that science is a tool
for learning about the natural world. It is ineffective for
moral choices, ethical dilemmas, and untestable ideas. For
example, the scientific method cannot tell us if pollution is
good or bad. It can tell us the environmental consequences of
pollution, but whether these consequences are good or
bad is a judgment that we make based on our values or
goals, not on science. Although this is an important limitation of the scientific method, science remains one of the
most powerful ways of knowing about our world.
Figure 1.1
Science is a process of learning about the natural world. Doing
experiments that involve gathering repeated and unbiased
measurements (data) is the heart of testing hypotheses and
answering questions.
The questioning and testing inherent in science systematically sift through natural variation to find underlying
patterns. The natural world includes much variation, and
learning biology would be relatively easy if simple observations accurately revealed patterns of the natural world. But
they usually dontnature is too complicated to rely solely
on simple observation. We can certainly learn much about
our environment just by looking around us, but casual
observations are often biased and misleading because nature
varies from time to time and from organism to organism. Biologists need a structured and repeatable process for testing
ideas about the variation in nature. Science is that process.
Question 2
What factors might be responsible for variation in measurements of traits such as the heights of 10-year-old pine trees,
or the kidney filtration rates of 10 replicate lab mice?
Question 1
What practices besides science are used among world cultures to learn about the natural world?
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Figure 1.2
Pillbugs are excellent experimental organisms to test hypotheses
about microenvironments, such as under logs and within leaf litter.
Pillbugs are readily available and easily cultured in the lab (10).
DEVELOPMENT OF OBSERVATIONS,
QUESTIONS, AND HYPOTHESES
Make Insightful Observations
Good scientists make insightful observations. But thats not
as easy as it seems. Consider these two observations:
Observation 1: There are fewer elk in Yellowstone
National Park than there used to be.
Observation 2: The density of elk in Yellowstone National Park has declined during the
consecutive dry years since the reintroduction of the native wolf population.
Which of these two observations is the strongest and most
useful? Both of them may be true, but the second one is
much more insightful because it provides a context to the
observation that the elk population is declining. It also
suggests a relevant factorthe introduction of the wolf
populationas a productive topic for investigation. It also
suggests a relationship between density of the elk population
and the variation in the local environment.
Procedure 1.1
Make insightful observations
1.
2.
3.
4.
5.
6.
EXERCISE 1
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Broad questions are important, but their generality often makes them somewhat vague. The best questions for the
process of science are specific enough to answer clearly.
Therefore, scientists usually refine and subdivide broad
questions into more specific ones. For example, a more specific question is What classes of biological molecules are
most readily absorbed and metabolized by yeast? Enter this
as Specific Question 1 in Worksheet 1.
A further clarification might be Does yeast absorb and
metabolize carbohydrates better than it absorbs and metabolizes proteins? This is a good, specific question because it
clearly refers to organisms, processes, and variables that are
likely involved. It also suggests a path for investigationthat
is, it suggests an experiment. Enter this as Specific Question
2 in Worksheet 1.
Question 3
Consider the questions What color is your roommates
car? and How many legs do cats have? To answer these
questions, would you use the scientific method, or would
you rely on observation? Why?
Procedure 1.2
Posing and refining questions
1.
2.
3.
4.
5.
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Figure 1.3
These tubes of yeast are
fermenting nutrients provided
in solution. The CO2 produced
by the yeast accumulates at the
top of the test tubes and
indicates that yeasts rate of
metabolism. From left to right,
the tubes include a control
with no added nutrients, a tube
with low nutrients, and a tube
with high nutrients.
Formulate Hypotheses
Well-organized experiments to answer questions require that
questions be restated as testable hypotheses. A hypothesis is a
statement that clearly states the relationship between biological
variables. A good hypothesis identifies the organism or process
being investigated, identifies the variables being recorded, and
implies how the variables will be compared. A hypothesis is a
statement rather than a question, and an analysis of your experimental data will ultimately determine whether to either accept
or reject your hypothesis. Remember that even though a hypothesis can be falsified, it can never be proved true.
Accepting or rejecting a hypothesis with no middle
ground may seem like a rather coarse way to deal with questions about subtle and varying natural processes. But using
controlled experiments to either accept or reject a hypothesis
is effective. The heart of science is gathering and analyzing
experimental data that leads to rejecting or accepting hypotheses relevant to the questions we want to answer.
In this exercise, you are going to do science as you investigate yeast nutrition and then experiment with food
choice by pillbugs. As yeast ferments its food, CO2 is
produced as a by-product. Therefore, we can measure the
growth of yeast by the production of CO2 (fig. 1.3).
A hypothesis related to our question about the growth
of yeast might be:
H0: CO2 production by yeast fed sugar is not significantly different from the CO2 production by
yeast fed protein.
A related alternative hypothesis can be similarly stated:
Ha: Yeast produces more CO2 when fed sugar than
when fed protein.
The first hypothesis (H0) is a null hypothesis because it
states that there is no difference. This is the most common
way to state a clear and testable hypothesis. (Your instructor
may elaborate on why researchers state and test null hypotheses more effectively than alternative hypotheses.) Researchers usually find it more useful to associate statistical
probabilities with null hypotheses rather than with alternative hypotheses. Enter the null hypothesis into Worksheet 1.
A well-written null hypothesis is useful because it is
testable. In our experiment, the null hypothesis (1) specifies yeast as the organism, population, or group that we want
to learn about; (2) identifies CO2 production as the
Scientific Method
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variable being measured; and (3) leads directly to an experiment to evaluate variables and compare means of replicated
measurements.
Procedure 1.3
Formulating hypotheses
1.
2.
3.
4.
5.
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6.
4.
5.
EXERCISE 1
6.
7.
8.
9.
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Procedure 1.5
Quantify and summarize the data
1.
2.
3.
4.
5.
6.
7.
Mean
Deviation
Deviation2
22
20
19
20
1
18
20
2
21
20
15
(x i x )2
i1
Where
N total number of samples
x the sample mean
xi measurement of an individual sample
N
The square root of the variance, 1.8 cm, equals the standard
deviation
SD
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SD 5
Meanb 20
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SD 10
Meanb (1/2)SD 15
Meanb (1/2)SD 25
them based on the results of your experiment and hypothesis testing should be straightforward.
Procedure 1.7
Answering the questions: yeast nutrition
1.
2.
3.
4.
5.
6.
5.
6.
EXERCISE 1
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3.
4.
Control treatment
Response variable
Treatment variable
Number of replicates
Means to be compared
2.
3.
4.
5.
6.
Procedure 1.9
Answering the questions: food preference by pillbugs
1.
2.
Question 5
What are some examples of biological theories?
Scientific Theories
Throughout this course you will make many predictions and
observations about biology. When you account for a group
of these observations with a generalized explanation, you
have proposed a scientific theory.
In science, as opposed to common usage, a theory is a
well-substantiated explanation of some aspect of the natural
world that usually incorporates many confirmed observational and experimental facts. A scientific theory makes predictions consistent with what we see. It is not a guess; on the
contrary, a scientific theory is widely accepted within the
scientific communityfor example, the germ theory claims
that certain infectious diseases are caused by microorganisms. Scientific theories do not become facts; scientific theories explain facts.
INVESTIGATION
How Temperature Affects the Production of CO2 by Yeast
Observation: Fermentation of nutrients by yeast produces
CO2, and the production rate of this CO2 can be used to measure growth of the yeast. In this lab youve already investigated
how the production of CO2 is affected by different nutrients
(i.e., sugar, protein). Here youll investigate another variable:
temperature.
Question: How is the production of CO2 by yeast affected by
temperature?
a. Establish a working lab group and obtain Investigation
Worksheet 1 from your instructor.
b. Discuss with your group well-defined questions relevant to
the preceding observation and question. Choose and record
your groups best question for investigation.
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Newspaper articles often refer to a discovery as scientific or a claim having been proved scientifically. What is
meant by this description?
2.
Experiments and publications in science are usually reviewed by other scientists. Why is this done?
3.
Have all of our discoveries and understandings about the natural world been the result of applying the scientific
method? How so?
4.
Suppose that you hear that two means are significantly different. What does this mean?
5.
Can means be different but not significantly different? Explain your answer.
6.
How can science be used to address big issues such as global warming?
7.
Some people dismiss evolution by natural selection as being only a theory. Biologists often respond that yes,
evolution is a scientific theory. What does this mean?
8.
A hallmark of a scientific theory is that it is falsifiable. What does this mean, and why is it important?
EXERCISE 1
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HYPOTHESIS H0:
EXPERIMENTAL DATA: Nutrient Use in Yeast
Treatments Minus Control x
Treatments
Control
CO2
Production
Replicate
(mm)
Replicate
Glucose
CO2
Production
(mm)
Replicate
Protein
CO2
Production
(mm)
Glucose CO2
Production
Adjusted for
the Control x
Protein CO2
Production
Adjusted for
the Control x
C1
______
G1
______
P1
______
______
______
C2
______
G2
______
P2
______
______
______
C3
______
G3
______
P3
______
______
______
C4
______
G4
______
P4
______
______
______
Control x ______
Protein x ______
Glucose x ______
Protein SD ______
Glucose SD ______
TEST HYPOTHESIS
Glucose x (1/2)SD ______
Do the half standard-deviations surrounding the means of the two treatments overlap? Yes ______ No ______
Are the means for the two treatments significantly different? Yes ______ No ______
Is the null hypothesis accepted? ______ or rejected? ______
ANSWER QUESTIONS
Answer to Specific Question 2
Answer to Specific Question 1
Answer to General Question
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HYPOTHESIS H0:
EXPERIMENTAL DATA: Food Preference by Pillbugs
Treatments Minus Control x
Treatments
Replicate
Control
Replicate
Treatment 1
Replicate
Treatment 2
Treatment 1
Adjusted for
the Control x
______
______
______
______
______
______
______
______
______
______
______
______
______
______
______
______
______
______
______
______
Control x ______
Treatment 2 x ______
Treatment 1 x ______
Treatment 2 SD ______
Treatment 2
Adjusted for
the Control x
Treatment 1 SD ______
TEST HYPOTHESIS
Treatment 1 x (1/2)SD ______
Do the half standard-deviations surrounding the means of the two treatments overlap? Yes ______ No ______
Are the means for the two treatments significantly different? Yes ______ No ______
Is the null hypothesis accepted? ______ or rejected? ______
ANSWER QUESTIONS
Answer to Specific Question 2
Answer to Specific Question 1
Answer to General Question
10
EXERCISE 1
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2. Measurements in
Biology: The Metric
System and Data Analysis
exercise two
Measurements in Biology
The Metric System and Data Analysis
Objectives
By the end of this exercise you should be able to:
1.
Identify the metric units used to measure length,
volume, mass, and temperature.
2.
Measure length, volume, mass, and temperature in
metric units.
3.
Convert one metric unit to another (e.g., grams to
kilograms).
4.
Use measures of volume and mass to calculate
density.
5.
Practice the use of simple statistical calculations
such as mean, median, range, and standard
deviation.
6.
Analyze sample data using statistical tools.
very day were bombarded with numbers and measurements. They come at us from all directions, including
while were at the supermarket, gas station, golf course,
and pharmacy, as well as while were in our classrooms and
kitchens. Virtually every package that we touch is described
by a measurement.
Scientists use a standard method to collect data as
well as use mathematics to analyze measurements. We must
measure things before we can objectively describe what we
are observing, before we can experiment with biological
processes, and before we can predict how organisms respond,
adjust to, and modify their world. Once we have made our
measurements, we can analyze our data and look for variation and the sources of that variation. Then we can infer the
causes and effects of the biological processes that interest us.
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Prefix
(Latin)
deci
2. Measurements in
Biology: The Metric
System and Data Analysis
(d)
centi
milli
(c)
(m)
0.01
0.001
10
103
micro
nano
()
(n)
0.000001
0.000000001
106
109
pico
(p)
0.000000000001
1012
Prefix
(Greek)
deka
(da)
hecto
(h)
101
102
kilo
(k)
1000
103
mega
giga
(M)
(G)
1000000
1000000000
106
109
10 mm
= 620 mm
cm
centimeters
92.4 millimeters
10 kilometers
82 centimeters
3.1 kilograms
meters
meters
meters
grams
millimeters
centimeters
decimeters
millimeters
The meter (m) is the basic unit of length. Units of area are
squared units (i.e., two-dimensional) of length.
1 m 100 cm 1000 mm 0.001 km
1 103 km
1 km 1000 m 103 m
1 cm 0.01 m 102 m 10 mm
470 m 0.470 km
1 cm2 100 mm2 (i.e., 10 mm 10 mm 100 mm2)
EXERCISE 2
Length
Housefly
Mt. Everest
Diameter of penny
Toyota Camry
0.5 cm
8848 m
1.9 cm
4.7 m
Area
Total skin area of adult human male
Football field (goal line to goal line)
Surface area of human lungs
Central Park (New York City)
Ping-pong table
Credit card
1.8 m2
4459 m2
80 m2
3.4 km2
4.18 m2
46 cm2
Procedure 2.1
Make metric measurements of length and area
Most biologists measure lengths with metric rulers or
metersticks.
1. Examine intervals marked on the metric rulers and
metersticks available in the lab.
2. Make the following measurements. Be sure to
include units for each measurement.
Length of this page
Width of this page
Area of this page
(Area Length Width)
Your height
Thickness of this manual
Height of a 200-mL beaker
Height of ceiling
Question 2
What are some potential sources of error in your
measurements?
Volume
Volume is the space occupied by an object. Units of volume
are cubed (i.e., three-dimensional) units of length. The liter
(L) is the basic unit of volume.
milligrams
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60 mL
500 cm3
355 mL
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System and Data Analysis
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Figure 2.1
Figure 2.2
Procedure 2.3
Measure the volume of a solid object by water
displacement
1.
2.
3.
4.
5.
Procedure 2.2
Make metric measurements of volume
1.
2.
3.
23
6.
Measurements in Biology
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System and Data Analysis
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(B)
(A)
Figure 2.3
Biologists use balances to measure mass. (A) The parts of a triple-beam balance include (a) the zero-adjustment knob, (b) measuring pan,
(c) movable masses on horizontal beams, and (d) balance marks. (B) A top-loading balance has a measuring pan, a power switch, and a zero
calibration button.
Procedure 2.4
Learn to use a pipet
Question 3
What volume of liquid did you measure?
Mass
Procedure 2.5
Make metric measurements of mass
1.
2.
3.
4.
5.
2.
14
40 g
2.45 g
0.62 kg
6.25 g
EXERCISE 2
1.
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2. Measurements in
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System and Data Analysis
Question 4
a. Density is mass per unit volume. Use data that
youve gathered to determine the density of water at
room temperature.
Density of water (mass/volume)
b.
c.
Temperature
Temperature is the measure of the kinetic energy of
moleculesthat is, the amount of heat in a system. Biologists measure temperature with a thermometer calibrated in
degrees Celsius (C). The Celsius scale is based on water
freezing at 0C and boiling at 100C. You can interconvert
C and degrees Fahrenheit (F) using the formula 5(F)
9(C) 160. Here are some typical temperatures:
40C
30.6C
75C
20C
37C
Procedure 2.6
Make metric measurements of temperature
1.
2.
3.
C
C
C
3.
4.
25
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5.
6.
7.
8.
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Question 6
a.
What is responsible for this difference between the
mean and median?
80 69 62 74 69 51 45 40 9 64 65 64 61 67
b.
c.
d.
b.
Sample 1: 25 35 32 28
Sample 2: 15 75 10 20
What is the mean for Sample 1?
What is the mean for Sample 2?
The median is between the seventh and eighth measurement: 64 mm. In this sample, the mean differs from the
median.
Significant Figures
Lets suppose that youre measuring the length of a bone, as
shown in figure 2.4. How would you record this lengthas
8 cm? 8.3 cm? 8.33 cm? 8.33333 cm? To answer this question, you need to know something about significant figures.
Significant figures are the number of figures required to
record a measurement so that only the last digit in the number is in doubt. For example, if the ruler youre using is calibrated only in centimeters and you find that the object
youre measuring is between 8 and 9 cm long (fig. 2.4), then
you should estimate your measurement only to a tenth of a
centimeter. That is, a measurement of 8.3 cm is acceptable,
but 8.33 is not because it implies a precision that did not exist in the equipment you used to make the measurement. If,
however, your ruler was calibrated in millimeters, then 8.33
cm would be acceptable. Remember this: When recording
measurements, include all of the digits you are sure of plus
an estimate to the nearest one-tenth of the next smaller
digit.
Here are some other guidelines for using the correct
number of significant figures in your measurements:
When adding or subtracting measurements, the answer
should have no more precision than the measurement
16
EXERCISE 2
having the least number of significant figures. For example, suppose the air temperature in an incubator
drops from 8.663C to 8.2C. This is a difference of
8.663C 8.2C = 0.5C, not 0.463C. If the second
temperature reading had been 8.200C, then the correct answer would have been 0.463C.
When converting measurements from one set of units
to another, do not introduce precision that is not present in the first number. For example, 8.3 cm = 83 mm,
not 83.0 mm.
When manipulating two measurements simultaneously, the precision of the final measurement should
not exceed that of the least number of significant figures. For example, the calculation for the mass of 17.2
mL of water is 17.2 mL 0.997821 g mL1 = 17.2 g,
not 17.162521 g.
Figure 2.4
cm
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System and Data Analysis
Variability
Rounding Numbers
b.
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49.515
49.51
49.5
50
50
Statisticians disagree on what to do when the number following the last significant figure is exactly 5, as in 89.5 (and, in
this case, the precision is limited to two significant figures).
Some round the measurement to the higher number, while
others claim that doing so introduces bias into the data. You
can decide which approach to take, but be consistent.
(x i x )2
i1
where
N total number of samples
x the sample mean
xi measurement of an individual sample
N
means to add up all the squared deviations from the first one
(i 1) to the last one (i N). The sum of squared deviations (10) divided by the number of samples minus one
(4 1 3) produces a value of 10/3 3.3 cm2 (note that
the units are centimeters squared). This is the variance:
Variance
Mean
Deviation
(Deviation)2
22
19
21
20
20
20
2
1
1
4
1
1
18
20
27
N1
The square root of the variance, 1.8 cm, equals the standard
deviation (SD):
SD
Sample
Value
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Procedure 2.7
Gather and analyze data statistically
1.
2.
3.
Range
All classmates
to
Male classmates
to
Female classmates
Standard deviation
to
All classmates
Male classmates
Female classmates
Male classmates
Female classmates
Median height
All classmates
Male classmates
Female classmates
INVESTIGATION
Variation in the Areas and Shapes of Leaves
Observation: Leaves, which are the primary photosynthetic
organ of most plants, are adapted for absorbing light. This involves exposing large surface areas to the environment.
c.
Question: How does the surface area and shape of leaves vary
on different parts of plants?
d.
18
EXERCISE 2
e.
f.
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What are the advantages and disadvantages of using the metric system of measurements?
2.
Why is it important for all scientists to use a standard system of measures rather than the system that may be most
popular in their home country or region?
3.
Do you lose or gain information when you use statistics to reduce a population to a few characteristic numbers?
Explain your answer.
4.
Suppose that you made repeated measurements of your height. If you used good technique, would you expect the range
to be large or small? Explain your answer.
5.
Suppose that a biologist states that the average height of undergraduate students at your university is 205 cm plus or
minus a standard deviation of 17 cm. What does this mean?
6.
What does a small standard deviation signify? What does a large standard deviation signify?
29
Measurements in Biology
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exercise three
The Microscope
Basic Skills of Light Microscopy
Objectives
Illuminating System
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20 mm
2 mm
0.2 mm
20 +m
2 +m
0.2 +m
2 nm
0.2 nm
20 nm
Figure 3.1
The size of cells and their contents. This diagram shows the size of human skin cells, organelles, and molecules. In general, the diameter of a
human skin cell is about 20 micrometers (m), of a mitochondrion is 2 m, of a ribosome is 20 nanometers (nm), of a protein molecule is 2 nm,
and of an atom is 0.2 nm.
Imaging System
The imaging system improves resolution and magnifies the image. It consists of the objective and ocular (eyepiece) lenses and
a body tube. The objectives are three or four lenses mounted on
a revolving nosepiece. Each objective is a series of several lenses
that magnify the image, improve resolution, and correct aberrations in the image. The most common configuration for student
microscopes includes four objectives: low magnification (4),
medium magnification (10), high magnification (40), and
oil immersion (100). Using the oil immersion objective requires special instructions, as explained in Exercise 24 to study
bacteria. To avoid damaging your microscope do not use the oil
immersion objective during this exercise.
The magnifying power of each objective is etched on
the side of the lens (e.g., 4). The ocular is the lens that
you look through. Microscopes with one ocular are mon-
22
EXERCISE 3
ocular microscopes, and those with two are binocular microscopes. Oculars usually magnify the image ten times. The
body tube is a metal casing through which light passes to
the oculars. In microscopes with bent body tubes and inclined oculars, the body tube contains mirrors and a prism
that redirects light to the oculars. The stage secures the glass
slide on which the specimen is mounted.
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Heath, William. Monster Soup commonly called Thames Water..., date unknown.
Art Gallery of Ontario, Toronto. Gift of the Trier-Fodor Foundation, 1980.
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Figure 3.2
Egad, I thought it was tea, but I see Ive been drinking a blooming micro-zoo! says this horrified, proper nineteenth-century London woman
when she used a microscope to examine her tea. People were shocked to learn that there is an active, living world too small for us to see.
Oculars
Body tube
Arm
Nosepiece
Objectives
Slide holder
to adjust
position
Stage
Stage clip
Condenser
Coarse focus
adjustment
Fine focus
adjustment
Light source
Base
Figure 3.3
Major parts of a compound light microscope.
33
The Microscope
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2.
3.
4.
5.
5.
6.
Question 1
a. As you view the letter e, how is it oriented? Upside
down or right side up?
b.
c.
2.
3.
4.
24
Magnification
Procedure 3.2
Determine magnification
1.
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2.
3.
where
MagTot total magnification of the image
MagObj magnification of the objective lens
MagOcu magnification of the ocular lens
4.
5.
6.
Question 2
a. How many times is the image of the e magnified
when viewed through the high-power objective?
b.
The field of view is the area that you can see through the
ocular and objective (fig. 3.4). Knowing the size of the field
of view is important because you can use it to determine the
approximate size of an object you are examining. The field
of view can be measured with ruled micrometers (fig. 3.5).
An ocular micrometer is a small glass disk with thin lines
numbered and etched in a row. It was put into an ocular on
your microscope so that the lines superimpose on the image
7.
Figure 3.4
TABLE 3.1
TOTAL MAGNIFICATIONS
Objective Power
Objective
Magnification
AND
AREAS
OF
FIELD
Ocular
Magnification
10
40
35
OF
VIEW (FOV)
Total
Magnification
FOR
THREE OBJECTIVES
FOV
Diameter (mm)
FOV
Area (mm2)
Measurement (mm)
for 1 Ocular Space
The Microscope
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View of
ocular
micrometer
View of
stage
micrometer
Figure 3.5
Stage and ocular micrometers. Micrometers are used to calibrate microscopes and measure the size of specimens.
and allow you to measure the specimen. Before you can use
the micrometer you must determine for each magnification
the apparent distance between the lines on the ocular
micrometer. This means that you must calibrate the ocular
micrometer by comparing its lines to those lines on a standard ruler called a stage micrometer. A stage micrometer is
a glass slide having precisely spaced lines etched at known
intervals.
Procedure 3.3
Use a stage micrometer to calibrate the ocular
micrometer, and determine the size of the field of view
1.
2.
3.
26
Rotate the ocular until the lines of the ocular micrometer parallel those of the stage micrometer (fig. 3.5).
Align lines at the left edges (0 lines) of the two
micrometers by moving the stage micrometer
(fig. 3.5).
Count how many spaces on the stage micrometer fit
precisely in a given number of spaces on the ocular
micrometer. Record the values here.
EXERCISE 3
y
x
4.
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6.
7.
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7.
8.
8.
3.
4.
5.
6.
Question 3
a. Which provides the largest field of view, the 10 or
40 objective?
b.
c.
d.
where
Procedure 3.4
Determine the depth of the field of view
1.
2.
37
3.
The Microscope
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4.
Question 5
a. Is the image always best with highest illumination?
b.
c.
5.
6.
Figure 3.6
A thin depth of field is apparent in this 100 image of cells of
Closterium, a green alga. The upper and lower layers of cells are out of
focus, while the midlayer of cells is within the thin depth of field and
is clearly focused.
Question 4
a.
Are all three colored threads in focus at low power?
b.
c.
3.
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(a)
Figure 3.7
(a) Preparing a wet mount of a biological specimen. (b) A wet mount might include the common algae Spirogyra, 800. See also figures 3.6, 24.9,
and 25.125.4.
Question 6
a.
Why is it important to put a coverslip over the drop
of water when you prepare a wet mount?
b.
Practice
For practice using your microscope, prepare some wet
mounts of pond water or a hay infusion to view the diversity
of protozoa and algae (fig. 3.8). If the protozoa are moving
too fast for you to examine carefully, add a drop of methylcellulose (often sold commercially as Proto-Slo) to your
sample. (The methylcellulose will slow the movement of
the protozoa.) Also examine the prepared slides available in
the lab. Youll examine these slides in more detail in the
coming weeks, so dont worry about their contents. Rather,
use this exercise to familiarize yourself with the microscope.
Also prepare wet mounts of the cultures available in the
lab and sketch the organisms that you see. When youve
finished, turn off the light source, cover your microscope,
and store the microscope in its cabinet.
39
Figure 3.8
The diversity of organisms in pond water (200).
The Microscope
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4.
Question 7
a. What is the area of the field of view when you use
the lowest magnification of your dissecting
microscope?
b.
c.
d.
e.
A COMPARISON OF COMPOUND
AND DISSECTING MICROSCOPES
Complete table 3.2 comparing magnification, resolution,
size of the field of view, and depth of field of a dissecting microscope and a compound microscope. Use the terms high,
low, or same to describe your comparisons.
Question 8
What other differences are there between compound and
dissecting microscopes?
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Figure 3.9
Dissecting (stereoscopic) microscope.
Ocular
lenses
Zoom
magnification
adjustment
Reflected
light
source
Arm
Objective
lenses
Focus
adjustment
Stage
Base
Transmitted
light source
TABLE 3.2
A COMPARISON
OF
DISSECTING
Characteristic
AND
COMPOUND MICROSCOPES
Dissecting Microscope
Compound Microscope
Magnification
Resolution
Size of field of view
Depth of field
INVESTIGATION
The Shapes, Surface Areas, and Volumes of Red Blood Cells
Observation: Red blood cells, which are the most common
type of blood cell, are used by vertebrates to deliver oxygen to
body tissues. Red blood cells are filled with hemoglobin, which
gives them their characteristic color.
Question: What are the shapes, surface areas, and volumes of
red blood cells?
a. Establish a working lab group and obtain Investigation
Worksheet 3 from your instructor.
b. Discuss with your group well-defined questions relevant to
the preceding observation and question. Choose and
record your groups best question for investigation.
c. Translate your question into a testable hypothesis and
record it.
311
d. Outline on Worksheet 3 your experimental design and supplies needed to test your hypothesis. Ask your instructor to
review your proposed investigation.
e. Conduct your procedures, record your data, answer your
question, and make relevant comments.
f. Discuss with your instructor any revisions to your questions,
hypothesis, or procedures. Repeat your work as needed.
The Microscope
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What are the advantages of knowing the diameter of the field of view at a given magnification?
2.
Why must specimens viewed with a compound microscope be thin? Why are they sometimes stained with dyes?
3.
Why is depth of field important in studying biological structures? How can it affect your ability to find and examine a
specimen?
4.
What is the importance of adjusting the light intensity when viewing specimens with a compound microscope?
5.
What is the function of each of the following parts of a compound and dissecting microscope?
Oculars
Objectives
Condenser
Iris diaphragm
Stage
Coarse adjustment
Fine adjustment
6.
Examine the micrograph of the letter e shown in figure 3.4. This letter is magnified 40. What is the actual height of
the letter?
32
EXERCISE 3
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L A B O R A T O R Y
Introduction
Dividing cells experience nuclear division, cytoplasmic division, and a period of time between divisions
called interphase. During interphase, the nucleus appears normal, and the cell is performing its usual
cellular functions. Also, the cell is increasing all of its components, including such organelles as the
mitochondria, ribosomes, and centrioles, if present. DNA replication (making an exact copy of the
DNA) occurs toward the end of interphase. Thereafter, the chromosomes, which contain DNA, are
duplicated and contain two chromatids held together at a centromere. These chromatids are called
sister chromatids.
During nuclear division, called mitosis, the new nuclei receive the same number of chromosomes
as the parental nucleus. When the cytoplasm divides, a process called cytokinesis, two daughter cells
are produced. In multicellular organisms, mitosis permits growth and repair of tissues. In eukaryotic,
unicellular organisms, mitosis is a form of asexual reproduction. Sexually reproducing organisms utilize
another form of nuclear division, called meiosis. In animals, meiosis is a part of gametogenesis, the
production of gametes (sex cells). The gametes are sperm in male animals and eggs in female animals.
As a result of meiosis, the daughter cells have half the number of chromosomes as the parental cell. As
we shall see, meiosis contributes to recombination of genetic material and to diversity among sexually
reproducing organisms.
This laboratory examines both mitotic and meiotic cell division to show their similarities and
differences and it also discusses chromosome abnormalities that can occur during mitosis and meiosis.
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Interphase
G2
growth and final
preparations for
division
as
ph
eta
m
o
Pr
in
tok
Cy
M
Mitosis
Te
lop
ha
se
Anapha
se
is
es
hase
Metap
e
G1
growth
G1
S
growth and DNA
replication
as
8.1
ph
Pr
o
34
S
G2
M
Explain why the entire process is called the cell cycle.
The time required for the entire cell cycle varies according to the organism, but 18 to 24 hours is
typical for animal cells. Mitosis (including cytokinesis, if it occurs) lasts less than an hour to slightly
more than 2 hours; for the rest of the time, the cell is in interphase.
Table 8.1
Structure
Description
Nucleus
Chromosome
A large organelle containing the chromosomes and acting as a control center for the cells
Rod-shaped body in the nucleus that is seen during mitosis and meiosis and that contains
DNA and, therefore the hereditary units, or genes
An organelle found inside the nucleus; composed largely of RNA for ribosome formation
Microtubule structure that brings about chromosome movement during cell division
The two identical parts of a chromosome following DNA replication
A constriction where duplicates (sister chromatids) of a chromosome are held together
The central microtubule-organizing center of cells; consists of granular material; in animal
cells, contains two centrioles
Short, cylindrical organelles in animal cells that contains microtubules and are associated
with the formation of the spindle during cell division
Short, radiating bers produced by the centrioles
Nucleolus
Spindle
Chromatids
Centromere
Centrosome
Centrioles*
Aster*
*Animal cells only
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Mitosis
Mitosis is nuclear division that results in two new nuclei, each having the same number of
chromosomes as the original nucleus. The parent cell is the cell that divides, and the resulting cells are
called daughter cells.
When cell division is about to begin, chromatin starts to condense and compact to form visible,
rodlike sister chromatids held together at the centromere (Fig. 8.2a). Label the sister chromatids,
centromere, and kinetochore in the drawing of a duplicated chromosome in Figure 8.2b. This illustration
represents a chromosome as it would appear just before nuclear division occurs.
Figure 8.2
Duplicated chromosomes.
1.
2.
3.
one chromatid
a.
b.
Spindle
Table 8.1 lists the structures that play a role during mitosis. The spindle is a structure that appears and
brings about an orderly distribution of chromosomes to the daughter cell nuclei. A spindle has bers
that stretch between two poles (ends). Spindle bers are bundles of microtubules, protein cylinders
found in the cytoplasm that can assemble and disassemble. The centrosome, the main microtubuleorganizing center of the cell, divides before mitosis so that during mitosis, each pole of the spindle has
a centrosome. Animal cells contain two barrel-shaped organelles called centrioles in each centrosome
and asters, arrays of short microtubules radiating from the poles (see Fig. 8.3). The fact that plant cells
lack centrioles suggests that centrioles are not required for spindle formation.
Observation: Animal Mitosis
Animal Mitosis Models
1. Using Figure 8.3 as a guide, identify the phases of animal cell mitosis in models of animal cell
mitosis.
2. Each species has its own chromosome number. Counting the number of centromeres tells you the
number of chromosomes in the models. What is the number of chromosomes in each of the cells
in this model series?
Whitesh Blastula Slide
The blastula is an early embryonic stage in the development of animals. The blastomeres (blastula
cells) shown are in different phases of mitosis (see Fig. 8.3).
1. Examine a prepared slide of whitesh blastula cells undergoing mitotic cell division.
2. Try to nd a cell in each phase of mitosis. Have a partner or your instructor check
your identication.
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Mitosis Phases
Figure 8.3
The colors signify that the chromosomes were inherited from different parents.
centrosome
has centrioles
Animal Cell
at Interphase
aster
20 m
duplicated
chromosome
MITOSIS
nuclear
envelope
fragments
20 m
spindle
pole
9 m
kinetochore
centromere
chromatin
condenses
nucleolus
disappears
kinetochore
spindle fiber
spindle
fibers forming
Early Prophase
Centrosomes have duplicated.
Chromatin is condensing into
chromosomes, and the nuclear
envelope is fragmenting.
centrosome
lacks centrioles
Plant Cell
at Interphase
400
cell wall
86
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chromosomes
6.2 m
500
spindle pole lacks centrioles and aster
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The phases of mitosis are shown in Figure 8.3. Mitosis is the type of nuclear division that (1) occurs in
the body (somatic) cells; (2) results in two daughter cells because there is only one round of division;
and (3) keeps the chromosome number constant (same as the parent cell).
chromosomes at
metaphase plate
20 m
daughter chromosome
20 m
cleavage furrow
16 m
nucleolus
kinetochore
spindle fiber
Metaphase
Centromeres of duplicated chromosomes
are aligned at the metaphase plate (center
of fully formed spindle). Kinetochore spindle
fibers attached to the sister chromatids
come from opposite spindle poles.
6.2 m
Anaphase
Sister chromatids part and become
daughter chromosomes that move toward
the spindle poles. In this way, each pole
receives the same number and kinds of
chromosomes as the parent cell.
Telophase
Daughter cells are forming
as nuclear envelopes and
nucleoli reappear. Chromosomes
will become indistinct chromatin.
6.2 m
1,500
spindle fibers
85
cell plate
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1. Identify the phases of plant cell mitosis using models of plant cell mitosis and Figure 8.3 as a guide.
2. Notice that plant cells do not have centrioles and asters. Plant cells do have centrosomes and this
accounts for the formation of a spindle.
3. What is the number of chromosomes in each of the cells in this model series?
Onion Root Tip Slide
1. In plants, the root tip contains tissue that is continually dividing and producing new cells. Examine
a prepared slide of onion root tip cells undergoing mitotic cell division. Try to nd the phases that
correspond to those shown in Figure 8.3.
2. Using high power, focus up and down on a cell in telophase. You may be able to just make out the
cell plate, the region where a plasma membrane is forming between the two prospective daughter
cells. Later, cell walls appear in this area.
3. In the boxes provided, draw and label the stages of mitosis as observed in the onion root tip slide.
Prophase
Prometaphase
Anaphase
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Metaphase
Telophase
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Cytokinesis
Cytokinesis, division of the cytoplasm,
usually accompanies mitosis. During
cytokinesis, each daughter cell receives
a share of the organelles that duplicated
during interphase. Cytokinesis begins in
anaphase, continues in telophase, and
reaches completion by the start of the
next interphase.
Cytokinesis in Animal Cells
2 m
cleavage furrow
contractile ring
2 m
Figure 8.4
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During cytokinesis in a plant cell, a cell plate forms midway between two daughter
nuclei and extends to the plasma membrane. Vesicles containing cell wall
components fuse to form cell plate.
cell plate
cell wall
cell
plate
cell plate
nuclei
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Meiosis
Meiosis is a form of nuclear division in which the chromosome number is reduced by half. The nucleus
of the parent cell has the diploid (2n) number of chromosomesthat is, two sets of chromosomes. After
meiosis is complete, the daughter nuclei have the haploid (n) number, or one set of chromosomes. For
example, diploid fruit y cells have 8 chromosomes (2n = 8) but undergo meiosis to produce gametes
with 4 chromosomes (n = 4). In sexually reproducing species, meiosis must occur or the chromosome
number would double with each generation.
A diploid nucleus contains homologues, also called homologous chromosomes. Homologues look
alike and carry the genes for the same traits. Before meiosis begins, the chromosomes are already double
strandedthat is, they contain sister chromatids.
Experimental Procedure: Meiosis
In this exercise, you will use pop beads to construct homologues and move the chromosomes to
simulate meiosis.
Building Chromosomes to Simulate Meiosis
1. Obtain the following materials: 48 pop beads of one color (e.g., red) and 48 pop beads of another
color (e.g., blue) for a total of 96 beads; eight magnetic centromeres; and four centriole groups.
2. Build a homologous pair of duplicated chromosomes using Figure 8.6a as a guide. Each chromatid
will have 16 beads. Be sure to bring the centromeres of two units of the same color together so that
they attract and link to form one duplicated chromosome. (One member of the pair will be red, and
the other will be blue.)
3. Build another homologous pair of duplicated chromosomes using Figure 8.6b as a guide. Each
chromatid will have eight beads. Be sure to bring the centromeres of two units of the same color
together so that they attract. (One member of the pair will be red, and the other will be blue.)
4. Note that your chromosomes are the same as those in Figure 8.7. The red chromosomes were
inherited from one parent, and the blue chromosomes were inherited from the other parent.
Figure 8.6
8 red
beads
8 blue
beads
4 red
beads
4 blue
beads
centromere
centromere
4 red
beads
4 blue
beads
8 blue
beads
8 red
beads
b.
a.
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Meiosis I
Meiosis requires two nuclear divisions, and the rst round during meiosis is called meiosis I (see Fig. 8.7).
During prophase of meiosis I, the spindle appears while the nuclear envelope and nucleolus
disappear. Homologues line up next to one another during a process called synapsis. During crossingover, the nonsister chromatids of a homologue pair exchange genetic material. At metaphase I, the
homologue pairs line up at the metaphase plate of the spindle. During anaphase I, homologues separate
and the chromosomes (still composed of two chromatids) move to each pole. In telophase I, the nuclear
envelope and the nucleolus reappear as the spindle disappears. Each new nucleus contains one from
each pair of chromosomes.
Prophase I
5. Using Figure 8.7 as a guide, put all four of the chromosomes you built in the center of your work
area, which represents the nucleus. Place two pairs of centrioles outside the nucleus.
6. Separate the pairs of centrioles, and move one pair to opposite poles of the nucleus.
7. Synapsis is the pairing of homologues during prophase I. Simulate synapsis by bringing the
homologues together.
8. Crossing-over is an exchange of genetic material between two homologues. It is a way to achieve
genetic recombination during meiosis. Simulate crossing-over by exchanging the exact segments of
two nonsister chromatids of a single homologous pair. Why use nonsister chromatids and not sister
chromatids?
Metaphase I
Position the homologues at the metaphase plate in such a way that the homologues are prepared to
move apart toward the centrioles.
Anaphase I
Separate the homologues, and move each one toward the opposite pole.
Telophase I
9. During telophase I, the chromosomes are at the poles. What combinations of chromosomes are at
the poles? Fill in the following blanks with the words red-long, red-short, blue-long, and blue-short:
Pole A:
and
Pole B:
and
10. What other combinations would have been possible? (Hint: Alternate the colors at metaphase I.)
Pole A:
and
Pole B:
and
Conclusions: Meiosis I
Do the chromosomes inherited from the mother or father have to remain together following
meiosis I?
Name two ways that meiosis contributes to genetic variation among offspring:
a.
b.
Interkinesis
Interkinesis is the period between meiosis I and meiosis II. In some species, daughter cells do not
form, and meiosis II follows right after meiosis I. Does DNA replication occur during interkinesis?
Explain.
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Meiosis II
The second round of nuclear division during meiosis is called meiosis II (see Fig. 8.7).
During prophase of meiosis II, a spindle appears. Each chromosome attaches to the spindle
individually. During metaphase II, the chromosomes are lined up at the metaphase plate. During
anaphase II, the centromeres divide and the chromatids separate, becoming daughter chromosomes that
move toward the poles. In telophase II, the spindle disappears as the nuclear envelope reappears. Notice
that meiosis II is exactly like mitosis except that the nucleus of the parent cell and the daughter nuclei
are haploid.
Prophase II
1. Using Figure 8.7 as a guide, choose the chromosomes from one telophase I pole (see step 9, page
92) to represent those in the parent nucleus undergoing meiosis II.
2. Place two pairs of centrioles at opposite sides of these chromosomes to form the new spindle.
Metaphase II
Move the duplicated chromosomes to the metaphase plate. How many chromosomes are at the
metaphase plate?
Anaphase II
Pull the two magnets of each duplicated chromosome apart. What does this action represent?
Telophase II
Put the chromosomeseach having one chromatidat the poles near the centrioles.
Conclusions: Meiosis II
You chose only one daughter nucleus from meiosis I to be the nucleus that divides. In reality
both daughter nuclei go on to divide again. Therefore, how many nuclei are usually present when
meiosis II is complete?
In this exercise, how many chromosomes were in the parent cell nucleus undergoing meiosis II?
How many chromosomes are in the daughter nuclei?
Explain.
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Meiosis Phases
Figure 8.7 Meiosis I and II in plant cell micrographs and animal cell drawings. Crossing-over occurred
during meiosis I.
MEIOSIS I
Plant Cell
at Interphase
centrosome has
centrioles
2n = 4
Animal Cell
at Interphase
Prophase I
Chromosomes have duplicated. Homologous
chromosomes pair during synapsis and
crossing-over occurs.
kinetochore
Metaphase I
Homologous pairs align
independently
at the metaphase plate.
Anaphase I
Homologous chromosomes separate
and move toward the poles.
MEIOSIS II
n=2
n=2
Prophase II
Cells have one chromosome
from each homologous pair.
Metaphase II
Chromosomes align
at the metaphase plate.
Anaphase II
Sister chromatids separate and
become daughter chromosomes.
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The phases of meiosis are shown in Figure 8.7. Meiosis is the type of nuclear division that (1) occurs in
the sex organs (testes and ovaries); (2) results in four cells because there are two rounds of cell division;
and (3) reduces the chromosome number to half that of the parent cell.
MEIOSIS I cont'd
Telophase I
Daughter cells have one chromosome
from each homologous pair.
n=2
Interkinesis
Chromosomes still
consist of two chromatids.
n=2
MEIOSIS II cont'd
n=2
n=2
Telophase II
Spindle disappears, nuclei form,
and cytokinesis takes place.
Daughter cells
Meiosis results in four
haploid daughter cells.
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In comparing mitosis to meiosis it is important to note that meiosis requires two nuclear divisions but
mitosis requires only one nuclear division. Therefore mitosis produces two daughter cells and meiosis
produces four daughter cells. Following mitosis, the daughter cells are still diploid but following
meiosis, the daughter cells are haploid. Figure 8.8 explains why. Fill in Table 8.2 to indicate general
Table 8.2
Meiosis
1. Number of divisions
2. Chromosome number in daughter cells
3. Number of daughter cells
Figure 8.8
Compare metaphase I of meiosis I to metaphase of mitosis. Only in metaphase I are the homologous chromosomes
paired at the metaphase plate. Members of homologous chromosome pairs separate during anaphase I, and therefore
the daughter cells are haploid. The blue chromosomes were inherited from one parent, and the red chromosomes were
inherited from the other parent. The exchange of color between nonsister chromatids represents the crossing-over that
occurred during meiosis I.
2n = 4
Prophase I
Synapsis and
crossing-over occur.
Metaphase I
Homologous pairs align
independently at the metaphase plate.
Anaphase I
Homologous chromosomes
separate and move towards the poles.
Metaphase
Chromosomes align
at the metaphase plate.
Anaphase
Sister chromatids separate and
become daughter chromosomes.
MEIOSIS I
2n = 4
Prophase
MITOSIS
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differences between mitosis and meiosis and complete Table 8.3 to indicate specic differences
between mitosis and meiosis I. Mitosis need only be compared with meiosis I because the exact events
occur during both mitosis and meiosis II except that the cells are diploid during mitosis and haploid
during meiosis II.
Table 8.3
Mitosis
Meiosis I
Prophase I:
Metaphase I:
Anaphase I:
Telophase I:
Telophase I
Daughter cells are forming
and will go on to divide again.
n=2
Daughter cells
Sister chromatids
separate and become
daughter chromosomes.
n=2
MEIOSIS I cont'd
n=2
MEIOSIS II
Daughter cells
Telophase
Daughter cells
are forming.
MITOSIS cont'd
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Karyotype Abnormalities
In a karyotype, the chromosomes of an organism are arranged so that the pairs of chromosomes can be
seen (Fig. 8.9). At that time, it is possible to observe any possible abnormalities in chromosome number
and structure.
Figure 8.9
Abnormalities of chromosome number usually occur when cells divide during mitosis or during
meiosis, signifying that these complex processes dont always occur as expected. The most common
abnormal meiotic result is a change in number so that the individual has either 45 chromosomes or 47
chromosomes, instead of 46 chromosomes. An extra or missing chromosome can cause a fetus and/or a
child to develop apparent abnormalities. For example, a fetus who has a missing X chromosome may fail
to develop the appearance of a female and may not have the internal organs of a female. Either sex that
has an extra chromosome 21 has the symptoms of Down syndrome (Fig. 8.9).
Abnormalities of chromosome structure can occur when cells divide, particularly if cells have
been subject to environmental inuences such as radiation or drug intake. Some of the more common
structural abnormalities are:
Deletion: The chromosome is shorter than usual because some portion is missing.
Duplication: The chromosome is longer than usual because some portion is present twice over.
Inversion: The chromosome is normal in length but some portion runs in the opposite direction.
Translocation: Two chromosomes have switched portions and each switched portion is on the
wrong chromosome.
Abnormalities of chromosome structure can result in recognized syndromes, a collection of symptoms
that always occur together. Which syndrome appears depends on the particular abnormality.
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8.5 Gametogenesis
in Animals
Gametogenesis is the formation
of gametes (sex cells) in animals.
In humans and other mammals,
the gametes are sperm and eggs.
Fertilization occurs when the nucleus
of a sperm fuses with the nucleus
of an egg.
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SPERMATOGENESIS
primary
spermatocyte
2n
Meiosis I
secondary
spermatocytes
n
Meiosis II
spermatids
Gametogenesis in Mammals
Gametogenesis occurs in the testes
of males, where spermatogenesis
produces sperm. Gametogenesis
occurs in the ovaries of females, where
oogenesis produces oocytes (eggs).
A diploid (2n) nucleus contains
the full number of chromosomes,
which is 46 in humans, and a haploid
(n) nucleus contains half as many,
which is 23 in humans. Gametogenesis
involves meiosis, the process that
reduces the chromosome number
from 2n to n. In sexually reproducing
species, if meiosis did not occur, the
chromosome number would double
with each generation. Meiosis consists
of two divisions: the rst meiotic
division (meiosis I) and the second
meiotic division (meiosis II). Therefore,
you would expect four haploid cells
at the end of the process. Indeed,
there are four sperm as a result of
spermatogenesis (Fig. 8.10). However,
in females, meiosis I results in a
secondary oocyte and one polar body.
A polar body is a nonfunctioning cell
that will disintegrate. A secondary
oocyte does not undergo meiosis II
unless fertilization (fusion of egg and
sperm) occurs. At the completion of
oogenesis, there is a single egg and at
least two polar bodies (Fig. 8.10).
Metamorphosis
and maturation
sperm
n
OOGENESIS
primary
oocyte
2n
Meiosis I
first
polar body
n
secondary
oocyte
n
Meiosis II
Meiosis II is completed
after entry of sperm.
second
polar body
n
egg
Fertilization
cont'd
sperm nucleus
fusion of sperm
nucleus and
egg nucleus
Figure 8.10
zygote
2n
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Examine any available gametogenesis models, and determine the diploid number of the parent cell
and the haploid number of a gamete. Remember that counting the number of centromeres tells you the
number of chromosomes.
Slide of Ovary
1. With the help of Figure 8.11, examine a prepared slide of an ovary. Under low power, you will see a
large number of small, primary follicles near the outer edge. A primary follicle contains a primary
oocyte.
2. Find a secondary follicle, and switch to high power. Note the secondary oocyte (egg), surrounded
by numerous cells, to one side of the liquid-lled follicle.
3. Also look for a large, uid-lled vesicular (Graaan) follicle, which contains a mature secondary
oocyte to one side. The vesicular follicle will be next to the outer surface of the ovary because this
type of follicle releases the egg during ovulation.
4. How many secondary follicles can you nd on your slide?
can you nd?
How does this number compare with the number of sperm cells seen in
The stages of follicle and oocyte (egg) development are shown in sequence. Each follicle goes through all the stages.
Following ovulation, a follicle becomes the corpus luteum.
secondary
follicle
oocyte
primary
follicles
ovulation
corpus
luteum
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oocyte
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Slide of Testis
1. With the help of Figure 8.12, examine a prepared slide of a testis. Under low power, note the many
circular structures. These are the seminiferous tubules, where sperm formation takes place.
2. Switch to high power, and observe one tubule in particular. Find mature sperm (which look like
thin, ne, dark lines) in the middle of the tubule. Interstitial cells, which produce the male sex
hormone testosterone, are between the tubules.
Summary of Gametogenesis
1. What is gametogenesis?
In general, how many chromosomes are in a gamete?
2. What is spermatogenesis?
How many chromosomes does a human sperm have?
3. What is oogenesis?
How many chromosomes does a human egg have?
4. Following fertilization, how many chromosomes does the zygote, the rst cell of the new
individual, have?
Figure 8.12
a. A testis contains many seminiferous tubules. b. Scanning electron micrograph of a cross section of the seminiferous
tubules, where spermatogenesis occurs. Note the location of interstitial cells in clumps among the seminiferous tubules in
this light micrograph.
interstitial cells
140mm
uncoiled
seminiferous
tubule
a. Testis
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Laboratory Review 8
1. During anaphase of mitosis in humans or other 2n organisms, do the chromosomes have one or two
chromatids as they move toward the poles?
2. During anaphase of meiosis I, do the chromosomes have one or two chromatids as they move toward
the poles?
3. During anaphase of meiosis II, do the chromosomes have one or two chromatids as they move toward
the poles?
4. Asexual reproduction of a haploid protozoan can be described as n n. Explain.
5. Explain why furrowing is a suitable mechanism for cytokinesis of animal cells but not plant cells.
6. A student is simulating meiosis I with chromosomes that are red-long and yellow-long; red-short
and yellow-short. Why would you not expect to nd both red-long and yellow-long in one resulting
daughter cell?
7. If there are 13 pairs of homologous chromosomes in a primary spermatocyte, how many chromosomes
are there in a sperm?
8. Assume that you have built a homologous pair of chromosomes, each having two chromatids. One
homologue contains red beads, while the other contains yellow beads.
Describe the appearance of two nonsister chromatids following crossing-over.
9. What are the major differences between mitosis and meiosis?
10. A person with Down syndrome has what type of chromosome abnormality?
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L A B O R A T O R Y
Mendelian Genetics
Learning Outcomes
9.1 One-Trait Crosses
State Mendels law of segregation, and relate this law to laboratory exercises. 10410
Describe the life cycle of Drosophila (fruit fly), and recognize these stages in a culture bottle. 1067
Describe and predict the results of a one-trait cross in both tobacco seedlings and Drosophila. 1047
9.2 Two-Trait Crosses
State Mendels law of independent assortment, and relate this law to laboratory exercises. 11013
Explain and predict the results of a two-trait cross in corn plants and Drosophila. 11113
9.3 X-Linked Crosses
Explain and predict the results of a cross in Drosophila for X-linked genes. 11415
9.4 Chi-Square Analysis
Utilize the chi-square statistical test to help determine whether data do or do not support a hypothesis. 11617
Introduction
Gregor Mendel, sometimes called the father of genetics, formulated the basic laws of genetics
examined in this laboratory. He determined that individuals have two alternate forms of a gene (two
alleles, in modern terminology) for each trait in their body cells. Today, we know that alleles are on the
chromosomes. An individual can be homozygous dominant (two dominant alleles, GG), homozygous
recessive (two recessive alleles, gg), or heterozygous (one dominant and one recessive allele, Gg).
Genotype refers to an individuals genes, while phenotype refers to an individuals appearance
(Fig. 9.1). Homozygous dominant and heterozygous individuals show the dominant phenotype;
homozygous recessive individuals show the recessive phenotype.
Figure 9.1 Genotype versus phenotype.
Allele Key
T = tall plant
t = short plant
Phenotype
Genotype
tall
TT
tall
Tt
short
tt
long wings
LL
long wings
Ll
short wings
ll
Allele Key
L = long wings
l = short wings
Phenotype
Genotype
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Law of Segregation
Each organism contains two alleles for each trait, and the alleles segregate during the
formation of gametes. Each gamete then contains only one allele for each trait. When
fertilization occurs, the new organism has two alleles for each trait, one from each parent.
Inheritance is a game of chance. Just as there is a 50% probability of heads or tails when tossing
a coin, there is a 50% probability that a sperm or egg will have an A or an a when the parent is Aa.
The chance of an equal number of heads or tails improves as the number of tosses increases. In the
same way, the chance of an equal number of gametes with A and a improves as the number of gametes
increases. Therefore, the 3:1 ratio among offspring is more likely when a large number of sperm fertilize
a large number of eggs.
Figure 9.2
Monohybrid cross.
These tobacco seedlings are growing on an agar plate. The white plants cannot manufacture chlorophyll.
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Key:
C = green
c = white
parents
Cc
Cc
eggs
offspring
sperm
White Color
Plate #
Plate #
Plate #
Totals
Class data
Explain.
Do a chi-square test (see Section 9.4 of this laboratory) to determine if the deviation from the
expected results can be accounted for by chance alone. Chi-square value:
Repeat these steps using the class data. Do your class data give a ratio that is closer to the
expected ratio, and is the chi-square deviation insignicant?
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1014 days
ventral
1 day
Pupa
Fertilized
egg
ventral
You will be provided with a stock culture of Drosophila melanogaster to examine. Answer the following
questions:
1. Where in the culture vial are the adult ies?
2. The eggs?
3. The larvae?
4. The pupae?
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Flies
You will be provided with either slides, frozen ies, or live ies to examine. If the ies are alive, follow
the directions on page 108 for using FlyNap to anesthetize them.
1. Put frozen or anesthetized ies on a white card, and use a camel-hair brush to move them around.
Use a stereomicroscope or a hand lens to see the ies clearly.
2. If you are looking at slides, you may use the scanning lens of your compound light microscope to
view the ies.
3. Examine wild-type ies. Complete Table 9.2 for wild-type ies. Long wings extend beyond the
body, and short (vestigial) wings do not extend beyond the body.
4. Examine mutant ies. Complete Table 9.2 for all the mutant ies you examined.
Table 9.2
Ebony Body
Short-Wing
Sepia-Eye
White-Eye
Wing length
Color of eyes
Color of body
5. Use the following characteristics to distinguish male ies from female ies (Fig. 9.3):
The male is generally smaller.
The male has a more rounded abdomen than the female. The female has a pointed abdomen.
Dorsally, the male is seen to have a black-tipped abdomen, whereas the female appears to have
dark lines only at the tip.
Ventrally, the abdomen of the male has a dark region at the tip due to the presence of claspers;
this dark region is lacking in the female.
6. In animals such as fruit ies, chromosomes differ between the sexes (Fig. 9.4). All but one pair
of chromosomes in males and females are the same; these are called autosomes because they do
not actively determine sex. The pair that is different is called the sex chromosomes. In fruit ies
and humans, the sex chromosomes in females are XX and those in males are XY. Some genes on
the X chromosome have nothing to do with gender and these genes are said to be X-linked. The Y
chromosome does not carry these genes and indeed carries very few genes.
Figure 9.4
Drosophila chromosomes.
95
Sex chromosomes
I
Autosomes
II
III
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Anesthetizing Flies
The use of FlyNapTM allows ies to be anesthetized for at least 50 minutes without killing
them.
1. Dip the absorbent end of a swab into the FlyNapTM bottle, as shown in Figure 9.5.
2. Tap the bottom of the culture vial on the tabletop to knock the ies to the bottom of the
vial. (If the medium is not rm, you may wish to transfer the ies to an empty bottle
before anesthetizing them. Ask your instructor for assistance, if this is the case.)
3. With one nger, push the plug slightly to one side. Remove the swab from the FlyNapTM,
and quickly stick the anesthetic end into the culture vial beside the plug so that the
anesthetic tip is below the plug. Keep the culture vial upright with the swab in one place.
4. Remove the plug and the swab immediately after the ies are anesthetized
(approximately 2 minutes in an empty vial, 4 minutes in a vial with medium), and spill
the ies out onto a white le card. The length of time the ies remain anesthetized
depends on the amount of FlyNapTM on the swab and on the number and age of the ies
in the culture vial.
5. Transfer the anesthetized ies from the white le card onto the glass plate of a
stereomicroscope for examination, or use a hand lens.
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Key:
L = long wings
l = short (vestigial) wings
Ll
parents
Ll
eggs
offspring
sperm
2. Week 2: Remove the heterozygous ies from the vial before their offspring pupate. Why is it
necessary to remove these ies before you observe your results?
3. Week 3: Observe the results of the cross by counting the offspring. Follow the directions on
page 108 for anesthetizing and removing ies. When counting, use the stereomicroscope or
a hand lens. Divide your ies into those with long wings and those with short (vestigial) wings.
Record your results and the class results in Table 9.3.
Table 9.3
Short Wings
Your data
Class data
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Explain.
Do a chi-square test (see Section 9.4 of this laboratory) to determine if the deviation from the
expected results can be accounted for by chance alone. Chi-square value:
Repeat these steps using the class data. Do your class data give a ratio that is closer to the expected
ratio, and is the chi-square deviation insignicant?
Explain.
9.2
Two-Trait Crosses
Two-trait crosses involve two pairs of alleles. Mendel found that during a dihybrid cross, when two
dihybrid individuals (AaBb) reproduce, the phenotypic ratio among the offspring is 9:3:3:1, representing
four possible phenotypes. He realized that these results could only be obtained if the alleles of the
parents segregated independently of one another when the gametes were formed. From this, Mendel
formulated his second law of inheritance:
Dihybrid cross.
20 mm
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parents
PpSs
PpSs
eggs
offspring
sperm
Purple Rough
Yellow Smooth
Yellow Rough
Sample #
Sample #
Sample #
Totals
Class data
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and
and
expected ratio?
Use the chi-square test (see Section 9.4 of this laboratory) to determine if the deviation from the
expected results can be accounted for by chance alone. Chi-square value:
Repeat these steps using the class data. Do your class data give a ratio that is closer to the expected
ratio, and is the chi-square deviation insignicant?
Explain.
Key:
L = long wing
l = short (vestigial) wing
G = gray body
g = ebony (black) body
parents
LlGg
LlGg
eggs
offspring
sperm
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2. Week 2: Remove the heterozygous ies from the vial before their offspring pupate. Why is it
necessary to remove these ies before you observe your results?
3. Week 3: Observe the result of the cross by counting the offspring. Follow the standard directions
(see page 108) for anesthetizing and removing ies. Find one y of each phenotype, and check
with the instructor that you have identied them correctly before proceeding. When counting, use
the stereomicroscope or a hand lens. Divide your ies into the groups indicated in Table 9.5, and
record your results. Also record the class data.
Table 9.5
Long Wings
Ebony Body
Short Wings
Gray Body
Short Wings
Ebony Body
Number of offspring
Class data
Explain.
Do a chi-square test (see Section 9.4) to determine if the deviation from the expected results can
be accounted for by chance alone. Chi-square value:
Repeat these steps using the class data. Do your class data give a ratio that is closer to the
expected ratio, and is the chi-square deviation insignicant?
Explain.
In the space provided, do a Punnett square to calculate the expected phenotypic results for the
cross L1Gg l1gg.
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X-Linked Crosses
In most animals, including fruit ies and humans, males usually have an X and Y chromosome
while females have two X chromosomes. Some alleles, called X-linked alleles, occur only on the X
chromosome. Males with a normal chromosome inheritance are never heterozygous for X-linked alleles
and if they inherit a recessive X-linked alleles, it will be expressed.
Key:
XR= red eyes
Xr = white eyes
XR Y
parents
XRXr
eggs
offspring
sperm
Males:
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2. Week 2: Remove the parental ies from the vial before their offspring pupate.
Why is it necessary to remove these ies before you observe your results?
3. Week 3: Observe the results of the cross by counting the offspring. Follow the standard directions (see
page 108) for anesthetizing and removing ies. When counting, use the stereomicroscope or a hand
lens. Divide your ies into the following groups: (1) red-eyed males, (2) red-eyed females, (3) whiteeyed males, and (4) white-eyed females. Record your results in Table 9.6. Also record the class data.
Table 9.6
Your Data:
Red Eyes
White Eyes
Males
Females
Class Data:
Males
Females
Explain.
In the space provided, do a Punnett square to calculate the expected phenotypic results for the
cross XRY XrXr.
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Chi-Square Analysis
Your experimental results can be evaluated using the chi-square (2) test. This is the statistical test
most frequently used to determine whether data obtained experimentally provide a good t, or
approximation, to the expected or theoretical data. Basically, the chi-square test can determine whether
any deviations from the expected values are due to chance. Chance alone can cause the actual observed
ratio to vary somewhat from the calculated ratio for a genetic cross. For example, a ratio of exactly
3:1 for a monohybrid cross is only rarely observed. Actual results will differ, but at some point, the
difference is so great as to be unexpected. The chi-square test indicates this point. After this point, the
original hypothesis (for example, that a monohybrid cross gives a 3:1 ratio) is not supported by the data.
The formula for the test is 2 = (d2/e)
where 2 = chi-square
= sum of
d = difference between expected and observed results (most often
termed the deviation)
e = expected results
For example, in a one-trait cross involving fruit ies with long wings (dominant) and fruit ies with
short wings (recessive), a 3:1 ratio is expected in the second generation (F2). Therefore, if you count
160 ies, 40 are expected to have short wings, and 120 are expected to have long wings. But if you
count 44 short-winged ies and 116 long-winged ies, then the value for the chi-square test would be as
calculated in Table 9.7.
Table 9.7
Phenotype
Observed
Number
Short wings
44
Long wings
116
Expected
Results
(e)
Difference
(d)
d2
Partial Chi-Square
(d2/e)
40
16
16/40 = 0.400
120
16
16/120 = 0.133
Now look up this chi-square value (2) in a table that indicates whether the probability (p) is that
the differences noted are due only to chance in the form of random sampling error or whether the results
should be explained on the basis of a different prediction (hypothesis). In Table 9.8, the notation C refers to
the number of classes, which in this laboratory would be determined by the number of phenotypic traits
studied. The example involves two classes: short wings and long wings. However, as indicated in the table
by C 1, it is necessary to subtract 1 from the total number of classes. In the example, C 1 = 1. Therefore,
the 2 value (0.533) would fall in the rst line of Table 9.8 between 0.455 and 1.074. These correspond with p
values of 0.50 and 0.30, respectively. This means that, by random chance, this difference between the actual
count and the expected count would occur between 30% and 50% of the time. In biology, it is generally
accepted that a p value greater than 0.10 is acceptable and that a p value lower than 0.10 indicates that the
results cannot be due to random sampling and therefore do not support (do not t) the original prediction
(hypothesis). A chi-square analysis is used to refute (falsify) a hypothesis, not to prove it.
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Table 9.8
p
C1
1
2
3
4
5
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Values of Chi-Square
Hypothesis is Supported
0.99
0.95
0.80
0.50
0.30
0.20
0.10
0.05
0.02
0.01
0.00016
0.0201
0.115
0.297
0.554
0.0039
0.103
0.352
0.711
1.145
0.064
0.446
1.005
1.649
2.343
0.455
1.386
2.366
3.357
4.351
1.074
2.408
3.665
4.878
6.064
1.642
3.219
4.642
5.989
7.289
2.706
4.605
6.251
7.779
9.236
3.841
5.991
7.815
9.488
11.070
5.412
7.824
9.837
11.668
13.388
6.635
9.210
11.345
13.277
15.086
Source: Data from W. T. Keeton, et al., Laboratory Guide for Biological Science, 1968, p. 189.
Use Table 9.9 for performing a chi-square analysis of your results from a previous Experimental
Procedure in this laboratory. If you performed a one-trait (monohybrid) cross, you will use only the rst
two lines. If you performed a two-trait (dihybrid) cross, you will use four lines.
2 =
C 1=
p (from Table 9.8) =
Table 9.9
Phenotype
Calculation of Chi-Square
Observed
Number
Expected
Results
(e)
Difference
(d)
Partial Chi-Square
(d2/e)
d2
=
=
=
=
Chi-square = 2 = (d2/e) =
915
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Laboratory Review 9
1. If offspring exhibit a 3:1 phenotypic ratio, what are the genotypes of the parents?
2. In fruit ies, which of the characteristics that you studied was X-linked?
3. If offspring exhibit a 9:3:3:1 phenotypic ratio, what are the genotypes of the parents?
4. If the F2 generation consists of 90 long-winged ies to 30 short-winged ies, what was the phenotype of
the F1 ies?
5. Briey describe the life cycle of Drosophila.
6. When doing a genetic cross, why is it necessary to remove parent ies before the pupae have hatched?
7. What is the genotype of a white-eyed male fruit y?
8. Suppose you counted 40 green tobacco seedlings and 2 white tobacco seedlings in one agar plate.
According to the chi-square test, do your results support the hypothesis that both parent plants were
heterozygous for the color allele?
9. Suppose you counted tobacco seedlings in six agar plates, and your data were as follows: 125 green
plants and 39 white plants. According to the chi-square test, are your deviations from the expected
values due to chance?
10. Suppose that students in the laboratory periods before yours removed some of the purple and yellow
corn kernels on the ears of corn as they were performing the Experimental Procedure. What effect
would this have on your results?
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L A B O R A T O R Y
10
Human Genetics
Learning Outcomes
10.1 Chromosomal Inheritance
Explain how nondisjunction occurs and which numerical sex chromosome abnormalities may result from
nondisjunction. 12023
10.2 Genetic Inheritance
Determine students genotypes by observing themselves and their relatives. 12425
Solve genetics problems involving autosomal dominant, autosomal recessive, and X-linked recessive alleles. 12528
Determine whether a pedigree represents a pattern of autosomal dominant, autosomal recessive, or X-linked
recessive inheritance. 12830
Introduction
Our study of human genetics in this laboratory rst concerns the inheritance of an abnormal chromosome
number (see also page 98). Figure 10.1 contrasts a normal karyotype with an abnormal one. As you can
see, the abnormal karyotype has three number 21 chromosomes instead of two number 21 chromosomes.
Therefore, this individual has trisomy 21 (Down syndrome), the most common autosomal trisomy in
humans. An eyelid fold; a at face, stubby ngers; a large ssured tongue, and usually some degree of mental
retardation characterize Down syndrome. While Down syndrome is an autosomal syndrome, our laboratory
concentrates on syndromes due to an abnormal sex chromosome number.
Next, we consider autosomal dominant and recessive traits in human beings before moving on
to recessive X-linked traits. We will have the opportunity to observe that Mendels laws apply not only
to peas and fruit ies, they also apply to humans. This laboratory provides an opportunity to practice
genetics problems. Finally, we will learn how to read and construct a pedigree, which is a diagram
showing the inheritance of a genetic disorder within a family. Genetic counselors use pedigrees to
counsel couples about the chances of passing a genetic disorder to their children.
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Chromosomal Inheritance
Usually, gametogenesis and fertilization occur normally, and an individual inherits 22 pairs of autosomes
and one pair of sex chromosomes (see Fig. 10.1a). Gametogenesis involves meiosis, the type of cell
division that reduces the chromosome number by one-half because the homologues separate during
meiosis I. When homologues fail to separate during meiosis I, called nondisjunction, gametes with too
few (n 1) or too many (n + 1) chromosomes result. Nondisjunction can also occur during meiosis II
if the chromatids fail to separate and the daughter chromosomes go into the same daughter cell. Again,
the gametes will have too few or too many chromosomes. Therefore, nondisjunction leads to various
syndromes because the individual has inherited an abnormal number of chromosomes (see Fig. 10.1b).
Table 10.1
Syndrome Number
Turner:
Normal Female:
Poly-X:
Normal Female:
Klinefelter:
Normal Male:
Jacob:
Normal Male:
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1. Obtain the following materials: 36 red pop beads, 26 blue (or green) pop beads, and eight magnetic
centromeres.
2. Build four duplicated sex chromosomes (3 Xs and 1 Y) as follows:
Two red X chromosomes: Each chromatid will have nine red pop beads. Place the centromeres so
that two beads are above each centromere and seven beads are below each centromere. Bring the
centromeres together.
One blue X chromosome: Each chromatid will have nine blue pop beads. Place the centromere so
that two beads are above each centromere and seven beads are below each centromere. Bring the
centromeres together.
Y chromosome: Each chromatid will have four blue pop beads. Place the centromeres so that
two beads are above each centromere and two beads are below each centromere. Bring the
centromeres together.
Simulating Meiosis During Normal Oogenesis
Place one blue X and one red X chromosome together in the middle of your work area. (The blue
X chromosome came from the father, and the red X chromosome came from the mother.) Have the
chromosomes go through meiosis I and meiosis II. What is the sex chromosome constitution of each of
the four meiotic products? Each egg has
(number)
(type) chromosome(s).
Place a red X and a blue Y chromosome together in the middle of your work area. (The red X
chromosome came from the mother, and the blue Y chromosome came from the father.) Have the
chromosomes go through meiosis I and meiosis II. What is the chromosome constitution of each of the
four meiotic products? Two sperm have one
one
sex chromosome.
Simulating Fertilization
In the Punnett square provided here, ll in the products of fertilization using the type of gamete that
resulted from normal oogenesis and the types of gametes that resulted from normal spermatogenesis.
(Disregard the color of the chromosomes.)
*Exercise courtesy of Victoria Finnerty, Sue Jinks-Robertson, and Gregg Orloff of Emory University, Atlanta, GA.
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a. Nondisjunction during oogenesis produces the types of eggs shown. Fertilization with normal sperm results in the
syndromes noted. (Nonviable means existence is not possible.) b. Nondisjunction during meiosis I of spermatogenesis
results in the types of sperm shown. Fusion with normal eggs results in the syndromes noted. Nondisjunction during
meiosis II of spermatogenesis results in the types of sperm shown. Fusion with normal eggs results in the syndromes
shown.
XX
XY
Nondisjunction during
meiosis I or meiosis II
Nondisjunction
during meiosis I
eggs
sperm
XX
XY
eggs
sperm
X
XXX
XO
poly-X
Turner
XX
XO
XXY
Turner
Klinefelter
XY
XY
meiosis I
Y
XXY
Klinefelter
nonviable
Nondisjunction
during meiosis II
sperm
YY
XX
eggs
XX
XO
XYY
XXX
Turner
Jacob
poly-X
1. Simulate meiosis during normal oogenesis and spermatogenesis as before, except as follows.
Assume that nondisjunction occurs during meiosis I, but the chromatids separate at the centromere
during meiosis II (Fig. 10.2a). What is the sex chromosome constitution of each of the four meiotic
products:
for oogenesis?
for spermatogenesis?
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(color) chromosome
(color) chromosome.
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2. In the space provided here, draw a Punnett square, and ll in the products of fertilization using
(a) normal sperm types of abnormal eggs as in Figure 10.2a, and (b) normal egg types of
abnormal sperm, as in Figure 10.2b for nondisjunction during meiosis I. (Disregard the color of the
chromosomes.)
a.
b.
Explain.
Explain.
1. Simulate meiosis during normal oogenesis and spermatogenesis as before, except as follows.
Assume that meiosis I is normal, but the chromatids of the chromosomes fail to separate during
meiosis II. What is the sex chromosome constitution of each of the four meiotic products:
for oogenesis?
for spermatogenesis?
2. In the space provided here, draw a Punnett square, and ll in the products of fertilization using
(a) normal sperm types of abnormal eggs, as in Figure 10.2a, and (b) normal egg types of
abnormal sperm, as in Figure 10.2b for nondisjunction during meiosis II.
a.
b.
Explain.
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Genetic Inheritance
Just as we inherit pairs of chromosomes, we inherit pairs of alleles, alternate forms of a gene. As
before, a dominant allele is assigned a capital letter, while a recessive allele is given the same letter
lowercased.
The genotype tells the alleles of the individual, while the phenotype describes the appearance of
the individual.
Figure 10.3
Straight hairline
Unattached earlobes
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Attached earlobes
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2. Determine your probable genotype. If you have the recessive phenotype, you know your genotype.
If you have the dominant phenotype, you may be able to decide whether you are homozygous
dominant or heterozygous by recalling the phenotype of your parents, siblings, or children. Circle
your probable genotype in the second column of Table 10.2.
3. Your instructor will tally the classs phenotypes for each trait so that you can complete the third
column of Table 10.2.
4. Complete Table 10.2 by calculating the percentage of the class with each trait. Are dominant
phenotypes always the most common in a population?
Table 10.2
Explain.
Trait: d = Dominant
r = Recessive
Possible
Genotypes
Hairline:
Widows peak (d)
Straight hairline (r)
WW or Ww
ww
Earlobes:
Unattached (d)
Attached (r)
EE or Ee
ee
Skin pigmentation:
Freckles (d)
No freckles (r)
FF or Ff
ff
HH or Hh
hh
Number in
Class
Percentage of
Class with Trait
TT or Tt
tt
LL or Ll
ll
II or Ii
ii
1. Nancy and the members of her immediate family have attached earlobes. Her maternal grandfather
has unattached earlobes. What is the genotype of her maternal grandfather?
Nancys
maternal grandmother is no longer living. What could have been the genotype of her maternal
grandmother?
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Aa
eggs
AA
Aa
Phenotypic Ratio
sperm
Aa
Aa
Key
A= Dominant allele
a = Recessive allele
Dominant phenotype
Recessive phenotype
3
1
aa
aa
eggs
Offspring
!
a
Aa
Aa
sperm
Aa
Parents
aa
aa
Key
A= Dominant allele
a = Recessive allele
Dominant phenotype
Recessive phenotype
Phenotypic Ratio
1
1
Offspring
Could both of his parents have had no hair on the back of the
Explain.
Sex Linkage
The sex chromosomes carry genes that affect traits other than the individuals sex. Genes on the sex
chromosomes are called sex-linked genes. The vast majority of sex-linked genes have alleles on the X
chromosome and are called X-linked genes. Most often, the abnormal condition is recessive.
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Color blindness is an X-linked, recessive trait. The possible genotypes and phenotypes are as
follows:
Females
Males
4. If you are a female and are not color blind, you can judge whether you are homozygous or
heterozygous by knowing if any member of your family is color blind. If your father is color blind,
what is your genotype?
If you know of no one in your family who is color blind, what is your probable genotype?
Genetics Problems Involving X-Linked Genetic Disorders
Figure 10.5
Left: A color-blind father has carrier daughters. Right: The sons of a carrier mother have a 50% chance of being color blind.
Parents
Parents
XB XB
eggs
XB
XB Xb
XBXb
sperm
Xb
XB
XB Y
Offspring
109
XBY
XB Y
Key
XB=Normal vision
Xb=Color blind
Normal vision
Color blind
Phenotypic Ratio
Females All
Males All
XBXb
eggs
XB
XB
Xb
XB XB
XB Xb
sperm
XbY
XBY
XbY
Key
XB=Normal vision
Xb=Color blind
Normal vision
Color blind
Phenotypic Ratio
Females All
Males 1
1
Offspring
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meiosis II?
Explain.
Pedigrees
A pedigree shows the inheritance of a genetic disorder within a family and can help determine whether
any particular individual has an allele for that disorder. Then a Punnett square can be done to determine
the chances of a couple producing an affected child.
In a pedigree, Roman numerals indicate the generation, and Arabic numerals indicate particular
individuals in that generation. The symbols used to indicate normal and affected males and females,
reproductive partners, and siblings are shown in Figure 10.6.
Pedigree Analyses
For each of the following pedigrees, determine how a genetic disorder is passed. Use Table 10.3 to
help with this determination. Is the inheritance pattern autosomal dominant, autosomal recessive,
or X-linked recessive? Also, decide the genotype of particular individuals in the pedigree. Remember
that the genotype indicates the dominant and recessive alleles present and the phenotype is the actual
physical appearance of the trait in the individual. A pedigree indicates the phenotype, and you can
reason out the genotype.
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Inheritance Pattern
Notes
Clues
Possible Genotypes
Autosomal dominant
(any chromosome
except X or Y)
AA or Aa = affected
aa = normal
Autosomal recessive
(any chromosome
except X or Y)
Neither parent is
affected. Few of the
children are affected.
AA or Aa = normal
Aa = carrier*
aa = affected
Trait is primarily
found in males. It is
often passed from
grandfather to
grandson.
A carrier is one who does not show the trait but has the ability to pass it on to his or her offspring.
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Pedigree 2
3. Pedigree 1: Try out a pattern of autosomal dominant inheritance by assigning appropriate genotypes
for an autosomal dominant pattern of inheritance to each person in this pedigree. Pedigree 2: Try
out a pattern of X-linked dominant inheritance by assigning appropriate genotypes for this pattern
of inheritance to each person in your pedigree. Which pattern is correct?
4. What is your key for this trait?
Key:
normal eyelashes
5. Use correct genotypes to show a cross between Henry and Isabella and calculate the expected
phenotypic ratio among the offspring:
Henry
Isabella
X
6. What are the percentage chances of Henry and Isabella having a child with double eyelashes?
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Laboratory Review 10
1. Name one pair of chromosomes not homologous in a normal karyotype.
2. A woman is heterozygous. Which one could produce an egg in which two X chromosomes carry an
allele for the recessive trait color blindness: nondisjunction during meiosis I or nondisjunction during
meiosis II?
Explain.
3. Which one could produce a sperm with two X chromosomes: nondisjunction during meiosis I or
nondisjunction during meiosis II?
Explain.
4. If an individual exhibits the dominant trait, do you know the genotype?
Why or why not?
and the
5. A son is color blind, but both parents are normal. Give the genotype of the mother
father
6. What pattern of inheritance in a pedigree would allow you to decide that a trait is X-linked?
7. What pattern of inheritance in a pedigree would allow you to decide that a trait is autosomal recessive?
8. What is the difference between a Punnett square and a pedigree?
9. What is the probability
a. two individuals with an autosomal recessive trait will have a child with the same trait?
b. a woman heterozygous for an X-linked trait will have a son with a genetic disorder if the genetic
disorder is recessive?
c. a woman whose father was color blind will have a son who is color blind?
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