Learning

Modules
for
General
Biology 2
(Core Subject)
 Chapter 1: Genetics
Pedigree Analysis

Overview
Humans have about 20,000 to 23,000 genes depending on how a gene is defined. A gene is
the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes
act as instructions to make molecules called proteins. In humans, somatic cells nuclei normally
have 46 chromosomes in 23 pairs. Each pair consists of one chromosome from the mother and
one from the father. Twenty-two of the pairs, chromosome numbers 1 to 22, the autosomes,
are normally homologous (identical in size, shape, and position and number of genes). The
23rd pair, the sex chromosomes (X and Y), determines a person’s sex as well as containing
other functional genes. Women have 2 X chromosomes (XX) in somatic cell nuclei; men have
one X and one Y chromosome (XY).

Lesson 1:
Pedigree Analysis
Concept in a box Your Goal:
Many are curious as to how and why most of the
At the end of this lesson you
family members share common traits yet some
are expected to construct
members of the same family don’t possess these traits
pedigrees and predict
or has the opposite. This lesson will help you
genotypes based on pedigree
understand how you are connected to a certain family
analysis.
member by identifying certain traits that are
observable to many. By analyzing a pedigree, we can
determine genotypes, identify phenotypes, and predict Your Goal:
how a trait will be passed on in the future. The
information from a pedigree makes it possible to At the end of this lesson you
determine how certain alleles are inherited: whether are expected to make a
they are dominant, recessive, autosomal, or sex- Pedigree Analysis of your
linked. But how do we really make a Pedigree? How family using a simple
would it help us in understanding the variety or genetic trait.
diversity of traits within a single family?
 Let’s imagine!
Your teacher gave you an assignment to draw your own family tree starting from your
Grandparents in both Mother and Father side. You wanted to submit a unique family tree that
would show connections between members of the family in a different way instead of having
the usual analysis. While thinking of what you’re going to do, your brother who has a curly
hair suddenly asked you if you’re doing okay. Noticing the difference between you and your
brother’s hair, you quickly asked how was this possible? It is at this moment where you
decided to look at the common and the opposite traits in your family to show connections
between each members. But how are you going to illustrate it? What system of analysis could
help you and other people understand the connections?

The succeeding activities will help you make a Family tree incorporating Pedigree analysis to
make your assignment more unique.

Relevant Vocabulary:
I. Allele - A version of a gene. Humans have 2 alleles of all their autosomal genes;
females have 2 alleles of X- linked genes; males have one allele of X-linked
genes (and one allele of Y-linked genes).
II. Hemizygous - Males are “hemizygous” for X-linked genes – males only have
one X chromosome and one allele of any X-linked gene.
III. Proband - The individual in the pedigree that led to the construction of the
pedigree. For example, a couple consults a medical geneticist because they have
an offspring who is afflicted with a disease and they want to find out the mode
of transmission of this disease. When the medical geneticist constructs the
pedigree, the offspring will be labeled as the proband. Through the pedigree, the
probability of having other affected children may be determined.
IV. Autosomal trait - A trait whose alleles that control it are found in the autosomes
(body chromosomes/ non-sex chromosomes)
V. Genotype - The gene pair an individual carries for a particular trait symbolized
with a pair of letters. By convention, uppercase letter (eg. A) for a dominant
allele and lowercase letter (eg. a) for the recessive allele. Any letter in the
alphabet may be used.
A. For a diploid organism with two alleles in a given gene pair, genotypes
may be written as:
i. Homozygous dominant, i.e. with two dominant alleles (DD)
ii. Heterozygous, i.e. with a dominant and recessive allele (Dd). The
individual will show the dominant phenotype.
iii. Homozygous recessive, i.e. with two recessive alleles (dd)
 VII. Phenotype –
A. The observable trait of an individual based on its genotype. Examples: red
flower, curly hair, blood types (i.e. the blood type is the phenotype).
B. For a typical Mendelian trait, phenotypes may either be:
i. Dominant. A trait that requires at least one dominant allele for the
trait to be expressed, e.g. Dd.
ii. Recessive. A trait that requires two recessive alleles for the trait to
be expressed.
VIII. Phenocopy - A trait that is expressed due to specific environmental conditions
(i.e. having hair that is dyed of a different color) and is not due to the genotype.

Learn more!
A pedigree chart displays a family tree, and shows the members of the family who are affected
by a genetic trait. This chart shows four generations of a family with four individuals who are
affected by a form of colorblindness.

Learn the Symbols!

 Circles represent Females
 Squares represent Males
 Each individual is represented by:
- a Roman Numeral, which stands for the generation in the family,
- a Digit, which stands for the number of individual/s within the generation. (For
instance, the female at the upper left is individual I-1.)
  The “founding parents” in this family are the female I-1 and the male I-2 in the first
generation at the top.
 A darkened circle or square represents an individual affected by the trait.
 A diagonal line through a symbol indicates that person is deceased.
 A male and female directly connected by a horizontal line have mated and has children.
These three pairs have mated in this tree: I-1 & I-2, II-2 & II-3, III-2 & III-3
 Vertical lines connect parents to their children. For instance, the females, II-1 and II-2
are daughters of I-1 and II-2
 The “founding family” consists of the two founding parents and their children, II-1 and
II-2.

In the pedigree shown above, the unaffected founding mother, I-1, and affected founding father,
I-2, are parents to two affected daughters, II-1 and II-2. The affected founding daughter II-2 and
the unaffected male II-3 who “marries into the family” have two offspring, an unaffected daughter
III-1 and affected son, III-2. Finally, this affected male III-2 and the unaffected female III-3 who
“marries in” have an unaffected son, IV-1
Pedigrees are interesting because they can be used to do some detective work and are often used
to study the genetics of inherited diseases. For example, pedigrees can be analyzed to determine
the mode of transmission for a genetic disease:
(1) Dominance - whether the disease alleles are dominant or recessive;
(2) Linkage - whether the disease alleles are X-linked (on the X chromosome) or autosomal.

Pedigree analysis is an example of abductive reasoning. In pedigree analysis you need to look
for any clues that will allow you to decide if the trait is dominant or recessive and whether it is
linked to an autosomal chromosome, or to the X chromosome.

It Runs in the Family!

When more than one individual in a family is afflicted with a disease, it suggests that the
disease might be inherited. A basic method for determining the pattern of inheritance of any
trait, including a disease, is to look at its occurrence in several individuals within a family,
spanning as many generations as possible. Family history information is usually combined
with information from medical tests, increasingly including genetic tests. From family history
and medical test results, a physician, genetic counselor, or researcher can draw a pedigree. A
pedigree is simply a family tree that uses a particular set of standardized symbols.
 Q1. Individual II-5 in the pedigree shown to the right is:
A. A male who does not exhibit the trait.
B. A father.
C. Has three affected siblings.
D. All of the above
Now let’s look at a larger pedigree.

This large pedigree was collected from an extended family all living in a small town

Q2. This disease is very severe and strikes early in childhood.

A) True B) False
Q3. This large pedigree shows a dominant trait because:
 A) Mostly males are affected.
B) The family is very large.
C) The trait shows up every generation.
D) Filled symbols always show dominance.
Spinocerebellar Ataxia (SCA1)

The pedigree shows a large extended

family affected by SCA1, a dominant
disease that disrupts parts of the
nervous system. Most individuals born
with SCA1 begin life with normal
motor control. As the disease
progresses, balance and movement
become increasingly affected. There
has been a mystery surrounding the age
of onset and severity of symptoms for
SCA1. Each generation, individuals
are affected by the disease at a younger
age, and symptoms are more severe.

Q4. What might account for the increasing severity and earlier onset of SCA1 each generation
A) There’s toxic waste in the town that is getting worse each year.
B) Doctors have become more aware of SCA1 and are diagnosing the disease in children
earlier than they did in the past.
C) People in the town are using their nervous systems in more challenging ways, making
symptoms seem more severe.
D) The mutation in the SCA1 gene is dynamic and changes each generation to cause a
more severe form of the disease.
Genetic Testing
There is no cure for SCA1. Treatments include devices that aid patients’ balance, and limited
therapies for some of the symptoms.
Opinion Poll 1. Since there is no cure for SCA1, why should family members be
encouraged to have a genetic test?
A) Because having the genetic data from these families will help research into the
disease.
B) Early detection of the disease can help families cope better with affected relatives.
C) The information could help individuals decide about marriage and children.
D) Relatives should not be encouraged to take a genetic test for mutated SCA1.

Now let’s consider another disease.

Colon Cancer Can Run in the Family

Image of a normal colon Image of a colon with cancer

Cancer remains a national health priority in the country with significant implications for
individuals, families, communities, and the health system. Cancer is the third leading cause of
morbidity and mortality in the country after diseases of the heart and the vascular system
(Philippine Health Statistics 2009). Among Filipino men, the 6 most common sites of cancer
diagnosed in 2010 (Globocan) were lung, liver, colon/rectum, prostate, stomach, and leukemia.
Among Filipino women the 6 most common sites diagnosed were breast, cervix, lung,
colon/rectum, ovary and liver. Furthermore, 189 of every 100,000 Filipinos are afflicted with
cancer while four Filipinos die of cancer every hour or 96 cancer patients every day, according
to a study conducted by the University of the Philippines’ Institute of Human Genetics, National
Institutes of Health.
Most colon cancers occur sporadically–meaning the disease is not seen to run in families. There
is, however, a form of colon cancer that is inherited, called FAP—Familial Adenomatous
Polyposis.
Colon tumors can be detected by endoscopy, a procedure that detects tumors after they have
formed. A gene-based test can assess FAP risk before tumors form. Detecting a mutant form of a
gene named APC has been found to be a reliable test for FAP risk.

A 19-year old girl has been diagnosed

with FAP (arrow). Her father and her
grandmother died of colon cancer. She
has four siblings whose risk for FAP has
not been determined.

Opinion Poll 2. The girl should:

A) Tell her sibs to get an APC gene test.
B) Suggest to her sibs that they visit her
genetic counselor.
C) Show them the scary pictures from her
endoscopy.
D) Keep her FAP diagnosis private from
her family.

Let’s look at another case!

In this case, each sibling decided to be tested for the mutant APC gene. A sister and brother
were found to be at high risk for FAP (filled symbols).

At the molecular level, FAP is known to be a

recessive disease—both copies of APC have to be
mutated for cancer to be initiated.
The FAP pedigree, however, has the appearance of a
dominant trait: Each generation has affected
individuals.
Q5. Why does FAP appear to be dominant?
A) Although individuals inherit only one mutant copy of APC, the odds of a mutation
occurring in the other copy are high.
B) The pedigree is small, and looks dominant because of random chance.
C) The father inherited a particularly bad form of the gene.
D) The siblings were probably raised in an environment with many cancer-causing
agents.
_____________________________________________________________________________
Practice!

1. Look at the family of IV-9 and IV-10. If the trait is dominant, is it possible for them to
have an affected offspring?
2. If the trait is recessive, is it also possible for IV-9 and IV-10 to have an unaffected
offspring?
3. Based on your answers for a) and b), is the trait dominant or recessive?
4. Give the genotypes of the following:
a. IV-9
b. IV-10
c. V-1
d. I-1
e. I-2
5. If IV-9 and IV-10 were to have another child, what is the probability that they will have
an affected offspring?
 1. Is this trait dominant or recessive?
2. What are the most probable genotypes of I-3 and I-4?
3. What are the most probable genotypes of II-4 and II-5?
4. What is the probability that II-4 and II-5 will have another normal offspring?

1. Is the trait dominant or recessive?

2. What are the most probable genotypes of I-2 and I-3?
3. What is the probability that II-2 is Dd?
4. What is the probability that II-1 and II-2 will have another normal offspring?

Let’s Apply!
Construct a pedigree of an authentic family tree using any of the following traits:
I. With (dominant) or without finger hair (recessive)
II. Normal (dominant) or hitchhiker’s thumb (recessive)
III. Widow’s peak (dominant) or straight hairline (recessive)
IV. Free (dominant) or attached earlobe (recessive)
V. Curly (dominant), wavy (heterozygous) or straight (recessive) hair
-------------------------------------------End of Lesson --------------------------------------------------
Resources:

 Khan Academy ‘Pedigree for determining probability of exhibiting sex linked recessive
trait’ KhanAcademy.Org https://www.khanacademy.org/science/high-school-biology/hs-
classical-genetics/hs-pedigrees/v/pedigree-for-determining-probability-of-exhibiting-
sex-linked-recessive-trait
 Biology LibreTexts ‘Pedigree Analysis’
https://bio.libretexts.org/Bookshelves/Genetics/Book%3A_Online_Open_Genetics_(Nic
kle_and_Barrette-Ng)/05%3A_Pedigrees_and_Populations/5.1%3A_Pedigree_Analysis
 Klug WS, Cummings MR, Spencer CA, Palladino MA.2012. Essentials of genetics. 8th
ed. Benjamin Cummings;2012. 624 p.
 Reece JB, Urry LA, Cain ML, Wasserman SA, Minorsky PV, Jackson RB. 2012.
Campbell biology, 9th ed. The Benjamin Cummings Publishing Co., Inc: 2012. 1464 p.
 Bennett RL, Steinhaus KA, Uhrich SB, O’Sullivan CK, Resta RG, Lochner-Doyle D,
Markel DS, Vincent V, Hamanishi J. Recommendations for standardized human
pedigree nomenclature. Am J Human Genet. 1995; 56:745-752.