QUIRINO STATE UNIVERSITY

DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

SELF - PACED
LEARNING MODULE
IN

GENERAL
BIOLOGY 2
NIMPHA B. AMTALAO
Instructor I
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QUIRINO STATE UNIVERSITY
DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

MODULE 1: GENETICS

COMPETENCIES
1. Make a Pedigree Analysis in the learner’s family using a simple genetic
trait.
2. Identify the mode of inheritance of a particular trait given the pedigree;
3. Predict the genotypes of parents; and
4. Compute the probability of occurrence of an affected offspring in a given
cross.

DISCUSSION
I. Relevant vocabulary
A. Pedigree. Making use of diagrams showing the ancestral relationships and
transmission of genetic traits over several generations in a family
B. 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.
C. Law of Segregation (1st Mendelian Law). For every trait governed by a pair
of alleles, these alleles segregate or separate during gamete formation in meiosis

D. Law of Independent Assortment (2nd Mendelian Law). A pair of alleles for

one trait will segregate or separate independently of another pair of alleles for
another trait during meiosis

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DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

E. Autosomal trait. A trait whose alleles that control it are found in the
autosomes (body chromosomes/ non-sex chromosomes)

F. 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
1. For a diploid organism with two alleles in a given gene pair, genotypes may
be
written as:
 Homozygous dominant, i.e. with two dominant alleles (DD)
 Heterozygous, i.e. with a dominant and recessive allele (Dd). The
individual will show the dominant phenotype.
 Homozygous recessive, i.e. with two recessive alleles (dd)
G. Phenotype
1. 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)
2. For a typical Mendelian trait, phenotypes may either be:
 Dominant. A trait that requires at least one dominant allele for the trait
to be expressed, e.g. Dd
 Recessive. A trait that requires two recessive alleles for the trait to be
expressed e.g. dd
H. 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.
I. Identical twins. Also known as monozygotic twins, which are derived from a
single fertilization event. After the first cleavage or cell division of the zygote, the
cells or blastomeres separate and become independent blastocysts implanted in
the mother’s uterus.
J. Fraternal twins. Twins that are derived from separate fertilization events
(two eggs fertilized by two sperms) within the fallopian tube, resulting in two
separate zygotes; also known as dizygotic twins

II. Review Monohybrid and Dihybrid cross

A monohybrid cross is a genetic mix between two individuals who have

homozygous genotypes, or genotypes that have completely dominant or
completely recessive alleles, which result in opposite phenotypes for a certain
genetic trait. Although he did not know it at the time, Gregor Mendel used
monohybrid crosses to identify dominant and recessive traits in his landmark
experiments with peas. Gregor Mendel focused on several different genetic
traits, but we will focus on one: stem length. Imagine that two types of pea
plants grow in a garden. One type of pea plant has long stems, while the other
has short stems. For the sake of this example,
assume that both types of pea plant have a

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DIFFUN CAMPUS
Diffun 3401, Quirino
LABORATORY HIGH SCHOOL

homozygous genotype (LL and ll), and that long stems (LL) are dominant over
short stems (ll). As mentioned, breeding a long-stemmed pea plant with a short-
stemmed pea plant creates offspring that all have a heterozygous genotype
(Ll). As long stems are dominant, all offspring will have the long-stemmed
phenotype. In different terms, and as modeled by Gregor Mendel’s classic pea
example observing the offspring of a monohybrid cross allows for determination
of dominant genotypes and, by extension, dominant phenotypes. (study
example below)

A dihybrid cross allows us to look at the pattern of inheritance of two different

traits at the same time. For example, say we are crossing two pea plants. The
two traits we are looking at are the seed color and shape. The first seed is green
and wrinkly, and the second is the dominant traits yellow and round.

F1 Genotype: 100% RrYy F2 Genotype: 9:3:3:1

Phynotype: 100% round and yellow

The first cross result into 100% round and yellow (RrYy). After self polination of
F1 Generation, the ratio is 9:3:3:1 or the phenotype observed are 9 round and
yellow: 3 round and green: 3 wrinkled and yellow and 1 wrinkled and green.

Test cross
When you have an individual with an unknown genotype, you do a test cross.
Test cross: Cross with a homozygous recessive individual.
For example, a plant with purple flowers can either be PP or Pp… therefore,
you cross the plant with a pp (white flowers, homozygous recessive)
P ?  pp

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DIFFUN CAMPUS
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LABORATORY HIGH SCHOOL

• If you get all 100% purple flowers, then the unknown parent was PP…

PEDIGREE ANALYSIS

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.

Circles represent females and 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 individual within the generation. (For
instance, The female at the upper left is individual I-1.) A darkened circle or
square represents an individual affected by the trait. The “founding parents” in
this family are the female I-1 and the male I-2 in the first generation at the top.
A male and female directly connected by a horizontal line have mated and have
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 this pedigree, 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.

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DIFFUN CAMPUS
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LABORATORY HIGH SCHOOL

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 chromsome) or
autosomal

Autosomal chromosomes - The 22 chromosome pairs other than the XX (female)

or XY (male) sex chromosomes. Hemizygous - Males are “hemizygous” for X-
linked genes – males only have one X chromosome and one allele of any X-
linked gene. 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).
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.

General Assumptions In the problems that follow, you’ll be reasoning about the
mode of transmission of genetic traits that are controlled by one gene, with two
alleles, a dominant allele and a recessive allele. We also make three simplifying
assumptions:

1. Complete Penetrance. An individual in the pedigree will be affected (express

the phenotype associated with a trait) when the individual carries at least one
dominant allele of a dominant trait, or two recessive alleles of a recessive a trait.
2. Rare-in-Population. In each problem, the trait in question is rare in the
general population. Assume for the purposes of these problems that individuals
who marry into the pedigree in the second and third generations are not
carriers. This does not apply to the founding parents – either or both of the
individuals at the top of the pedigree could be carriers.
3. Not-Y-Linked. The causative genes in these problems may be autosomal or
X-Linked, but are not Y-linked.

Key Patterns in Pedigree Analysis

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LABORATORY HIGH SCHOOL

5 Key Clues There are five things to remember in reasoning about pedigrees.
(1) An unaffected individual cannot have any alleles of a dominant trait.
(because a single allele of a dominant trait causes an individual to be
affected).
(2) Individuals marrying into the family are assumed to have no disease
alleles - they will never be affected and can never be carriers of a
recessive trait. (because the trait is rare in the population)
(3) An unaffected individual can be a carrier (have one allele) of a
recessive trait. (because two alleles of a recessive trait are required for an
individual to be affected)
(4) When a trait is X-linked, a single recessive allele is sufficient for a
male to be affected. (because the male is hemizygous – he only has one
allele of an X-linked trait)
(5) A father transmits his allele of X-linked genes to his daughters, but
not his sons. A mother transmits an allele of X-linked genes to both her
daughters and her sons.

ENRICHMENT ACTIVITIES
1. If two parents carry the recessive gene of Cystic Fibrosis (c), that is, they
are heterozygous (C c), what is the probability of having an infected
child?
2. What is the expected phenotype and genotype of the following crosses:
DD x DD

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LABORATORY HIGH SCHOOL

DD x Dd
DD x dd
Dd x Dd
Dd x dd
3. If you get 50% white, 50% purple flowers, find the unknown parent.

COMPREHENSION CHECK
Direction: Study the pedigree bellow and answer the following questions.

A. 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?
B. If the trait is recessive, is it also possible for IV-9 and IV-10 to have an
unaffected offspring?
C. Based on your answers for a) and b), is the trait dominant or recessive
D. Make a Pedigree Analysis of your family using a simple genetic trait.

Reference

Reece, J.B. 2013). Campbell Biology, 10th Ed. Pearson Education, Inc. United States of America

Try to open the following link

https://www.youtube.com/watch?v=11s5Biyi9q4
https://www.youtube.com/watch?v=Wgmgt_Ph6Ko

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