Lesson 1.

Pedigree Analysis

General Biology 1/2

2
Science, Technology, Engineering, and Mathematics
Many model
organisms, such as
mice, zebrafish,
peas, and fruit
flies, make the
analysis of the
inheritance of
biological traits
convenient.
2
By contrast, due to various complications and ethical
considerations, studying the inheritance of human traits is
more challenging.

3
How can you compare the study
of inheritance in peas with that
in humans?

4
Studying Inheritance in Peas

Con

5
Studying Inheritance in Peas

Con
Matings of
individuals
can be
controlled.

6
Studying Inheritance in Peas

The
generation
Con time is
relatively
shorter.
Matings of
individuals
can be
controlled.

7
Studying Inheritance in Peas

The
generation
Con time is
relatively
shorter.
Matings of The
individuals number of
can be offspring is
controlled. relatively
larger.

8
Studying Inheritance in Peas

Handing
The the
generation organism
Con time is is more
relatively convenient
shorter. .
Matings of The
individuals number of
can be offspring is
controlled. relatively
larger.

9
Studying Inheritance in Humans

Con

10
Studying Inheritance in Humans

Con
Matings
can never
be done in
controlled
conditions.

11
Studying Inheritance in Humans

The
generation
Con time is
relatively
longer.
Matings
can never
be done in
controlled
conditions.

12
Studying Inheritance in Humans

The
generation
Con time is
relatively
longer.
Matings
The
can never
number of
be done in
offspring is
controlled
relatively
conditions.
smaller.

13
Studying Inheritance in Humans

The Collection
generation of relevant
Con time is informatio
n is more
relatively
longer. tedious.
Matings
The
can never
number of
be done in
offspring is
controlled
relatively
conditions.
smaller.

14
 Using Pedigrees

A pedigree is a pictorial representation of

how a trait is transmitted among the
members of a family.
15
 Using Pedigrees

Identification of the mode of

inheritance of an unknown
genetic trait.

A pedigree is a pictorial representation of

how a trait is transmitted among the
members of a family.
16
 Using Pedigrees

Identification of the mode of

inheritance of an unknown
genetic trait.

Determination of the
genotype of an individual with
respect to a trait.

A pedigree is a pictorial representation of

how a trait is transmitted among the
members of a family.
17
 Using Pedigrees

Identification of the mode of

inheritance of an unknown
genetic trait.

Determination of the
genotype of an individual with
respect to a trait.

Determination of the risk of

A pedigree is a pictorial representation of recurrence of a genetic
how a trait is transmitted among the condition in a family.
members of a family.
18
Challenges of Pedigree Analysis

A major challenge in
pedigree analysis is
being able to collect
substantial and accurate
information regarding
the history of a family
with regard to a genetic
condition.

19
Pedigree Analysis in Genetic Counseling

Genetic
Counseli
ng

20
 Pedigree Analysis in Genetic Counseling

Performed in accredited
health institutions

Genetic
Counseli
ng

21
 Pedigree Analysis in Genetic Counseling

Advice is also given to

Performed in accredited
families at risk of having
health institutions
a genetic condition

Genetic
Counseli
ng

22
 Pedigree Analysis in Genetic Counseling

Advice is also given to

Performed in accredited
families at risk of having
health institutions
a genetic condition

Genetic
Counseli
ng

Advice is given to a
family with a genetic
condition

23
 Pedigree Analysis in Genetic Counseling

Advice is also given to

Performed in accredited
families at risk of having
health institutions
a genetic condition

Genetic
Counseli
ng

Advice is given to a Elaborates on the

family with a genetic genetic, psychological,
condition developmental aspects

24
Constructing Pedigrees

25
Constructing Pedigrees

Use a “square”
for male
individuals,
while use a
“circle” for
female
individuals.

26
Constructing Pedigrees

Use a
“diamond” for
individuals
whose specific
sex cannot be
identified.

27
Constructing Pedigrees

Use a “shaded”
symbol if an
individual is
confirmed to
have the genetic
condition.

28
Constructing Pedigrees

Sometimes, a
“slash” is used
to specify
whether an
individual is
already
deceased.

29
Constructing Pedigrees

Use an “arrow”
for the proband:
the individual
who first sought
medical
attention.

30
Constructing Pedigrees

Use a “half-
shaded” symbol
to denote that an
individual is a
carrier.

31
Constructing Pedigrees

Use a
“horizontal line”
to connect the
members of a
couple.

32
Constructing Pedigrees

Use a “double
horizontal line”
to connect the
members of a
couple who are
genetically
related.

33
Constructing Pedigrees

Use a “common
branching
point” for the
members of
twins.

34
Constructing Pedigrees

Connect them if
they are
monozygotic. Do
not connect
them if they are
dizygotic.

35
Constructing Pedigrees

Use Roman
numerals to
represent the
order of
generations.

36
Constructing Pedigrees

Use Arabic
digits to number
the individuals
from left to right
every
generation.

37
Autosomal Traits

Autosomal traits have their genes located on autosomes, which are the 44
chromosomes (22 pairs) common for both males and females. 40
Autosomal Dominant Inheritance

1. Relatively easier to identify because the affected

individuals manifest the corresponding trait. 41
Autosomal Dominant Inheritance

2. Affected individuals should have at least one affected

parent (e.g., II-4 from I-1; III-2 from II-2) 42
Autosomal Dominant Inheritance

3. Autosomal dominant traits have the tendency to not

skip generations. 43
Autosomal Dominant Inheritance

4. Genotypes can be assigned to all of the individuals

with respect to the identified inheritance pattern. 44
Autosomal Dominant Inheritance

4. Genotypes can be assigned to all of the individuals

with respect to the identified inheritance pattern. 45
Autosomal Dominant Inheritance

Achondroplasia, an autosomal dominant condition, is characterized by impaired

conversion of cartilage into bones during development. 46
 Autosomal Recessive Inheritance

1 2 1. Analysis is
relatively
more
challenging
because
II individuals
may have the
1 2 3 4 5
allele but do
not express
them (i.e.,
carriers).
III

1 2 3 4 47
 Autosomal Recessive Inheritance

1 2 2. Affected
individuals
may have
both
II
unaffected
parents
1 2 3 4 5 (e.g., both
parents of
III-3 are
III unaffected).

1 2 3 4 48
 Autosomal Recessive Inheritance

1 2
3. Autosomal
recessive
traits have
II the
1 2 3 4 5 tendency to
skip
generations.

III

1 2 3 4 49
 Autosomal Recessive Inheritance

Aa Aa 4. Genotypes
can be
assigned to
all of the
individuals
II
with respect
Aa aa Aa Aa Aa to the
identified
inheritance
pattern.
III

Aa Aa aa A__ 50
Autosomal Recessive Inheritance

Cystic fibrosis is an autosomal

recessive condition that is
characterized by the buildup of
mucus in respiratory and
digestive organs, which results
in various other complications.

51
 Autosomal Recessive Inheritance

Sickle cell anemia is a

recessive mutation of the
hemoglobin gene. Gas
transport is impaired, and the
sickle-shaped red blood cells
may become stuck in small
blood vessels.

52
 Let’s Practice!

A trait that runs in the family

given below was analyzed by a
genetic counselor. She was able
to illustrate its transmission
through the pedigree given
below. What is the mode of
inheritance of this trait? Justify
your answer. (Take note that
the carriers, if there are any,
are not marked with dots) 56
 Let’s Practice!

A trait that runs in the family given

below was analyzed by a genetic
counselor. She was able to illustrate its
transmission through the pedigree given
below. What is the mode of inheritance
of this trait? Justify your answer. (Take
note that the carriers, if there are any,
are not marked with dots)

The trait in the given pedigree follows an autosomal

recessive mode of inheritance because two unaffected
parents had an affected child. 57
Try It!

Jane and Robert married, and they had

three children. If a genetic disorder,
which neither of them possesses,
appeared in their third child, what is the
mode of inheritance of the condition?

58
Try It!

Analyze the following pedigree below.

Determine the mode of inheritance of
the trait that runs in the given family.

59
 Let’s Practice!

The following pedigree below

shows the inheritance of an
autosomal dominant trait in
a family. Given this mode of
inheritance, what are the
genotypes of all the
individuals in the pedigree?
(Take note that the carriers,
if there are any, are not
marked with dots.) 60
 Let’s Practice!

The following pedigree below shows

the inheritance of an autosomal
dominant trait in a family. Given this
mode of inheritance, what are the
genotypes of all the individuals in
the pedigree? (Take note that the
carriers, if there are any, are not
marked with dots.)
Individuals I-1, I-3, II-2, II-4, II-5, and III-2 have the
genotype Aa. Individuals I-2, I-4, II-1, II-3, II-6, III-1, and
III-3 have the genotype aa.
61
 Let’s Practice!

Agnes and Jerwin married. Their first child is a girl

named Dorothy. She has two brothers named Mark
and Raymond, respectively. Mark and Raymond have
a genetic condition that causes them to have dark
urine, which neither of their parents has. Later on,
Dorothy married Michael, who is unaffected, and
they had three children. The first two children, a boy,
and a girl, respectively, are normal. However, their
third child, who is a boy, has the genetic condition
that Mark and Raymond have. 62
 Let’s Practice!

Furthermore, Raymond married Melissa, who is

unaffected. They have three children, the first two
being boys, and the third one is a girl, all of whom are
affected. Construct a pedigree for this family and
determine the mode of inheritance of the genetic
condition.

63
 Let’s Practice!

Construct a pedigree
for this family and
determine the mode
of inheritance of the
genetic condition.

The mode of inheritance must be autosomal recessive.

64
Try It!

Jane married Paul, who has a certain

genetic condition that runs in his family.
They had three children. Their first
child, a boy named Marco, does not
have the condition. However, their
second and third children, Rica and
Angela, both have the condition.

65
Try It!

Later on, Angela married Dexter. They

have five children, the first child being a
girl named Roxi. The rest are boys, the
last two being affected by the condition.
Construct a pedigree of their family and
analyze the mode of inheritance of the
trait.

66
 Check Your Understanding

Determine the accuracy of each of the following

statements. Write true if the statement is correct and
false if otherwise.

1. Controlled matings are possible in humans.

2. Generation time is shorter in peas than in humans.
3. Pedigree analysis can help assess the risk of
recurrence of a genetic disorder.

67
 Check Your Understanding

By using gene B, determine the genotypes of the

individuals in the given pedigree below.

1. I-1 ___
2. I-2 ___
3. II-2 ___
4. II-3 ___
5. II-5 ___
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 Let’s Sum It Up!

● The analysis of the inheritance of traits in humans is

a far more complicated task compared with that of
peas and fruit flies.

● The challenge of analyzing human inheritance lies in

their longer generation time, the limited sample
size for analysis, and the impossibility of
performing matings in controlled environments.
69
 Let’s Sum It Up!

● Pedigree analysis was devised to observe and

analyze how a trait runs in families. It uses a
pedigree, a pictorial representation of the
transmission of a characteristic in at least two
generations of families.

● Pedigrees in basic research and genetic counseling

use a set of standard symbols and notations.
70
 Let’s Sum It Up!

● Pedigrees are used to determine the mode of

inheritance of a trait.
○ Individuals with an autosomal dominant trait
usually have at least one affected parent.
○ Individuals with an autosomal recessive trait
usually have no affected parents. Although, still,
there are cases when one parent is also affected
by the recessive condition.
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 Let’s Sum It Up!

● Different genetic conditions in humans are

autosomal. Achondroplasia is inherited as a
dominant trait, while phenylketonuria, cystic
fibrosis, and sickle cell disease are inherited as
recessive traits.

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Let’s Sum It Up!

The uses and applications of pedigree analysis in studying human

inheritance

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Challenge Yourself

Determine the mode of inheritance

of the trait that runs in the given
pedigree below. Justify your answer.

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Photo Credits
● Slide 2: Zebrafish (26436913602) by Oregon State University is licensed under CC BY-SA 2.0 via
Wikimedia Commons.

● Slide 2: Drosophila melanogaster - Fruit fly by michael is licensed under CC BY 2.0 via
Wikimedia Commons.

● Slides 7 to 11: Peas in pods - Studio by Bill Ebbesen is licensed under CC BY-SA 3.0 via
Wikimedia Commons.

● Slides 22 to 26: Eye Care Consultation by National Eye Institute is licensed under CC BY 2.0 via
Flickr.

● Slide 48: Peter Dinklage (9350750232), cropped, by Gage Skidmore from Peoria, AZ, United
States of America is licensed under CC BY-SA 2.0 via Wikimedia Commons. 75
Bibliography

Brooker, J. Concepts of Genetics (1st ed.). New York, USA: McGraw-Hill Companies Inc., 2012.

Klug, W.S, and Cummings, M.R. Concepts of genetics (6th ed). Upper Saddle River, N.J: Prentice-Hall.
2003.

Pierce, B. Genetics: a conceptual approach (8th ed). New York: W.H. Freeman. 2012.

Reece J., Taylor M., Simon E., and Dickey J. Campbell Biology: Concepts and Connections (7th ed.).
Boston: Benjamin Cummings/Pearson. 2011.

Snustad, D.P., and Simmons, M.J. Principles of Genetics (6th ed.). Hoboken, NJ: Wiley. 2012.

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