Module 2 Hereditary: Inheritance and Variation

Lecture Notes
In Grade 8, you learned that cells divide to produce new cells and meiosis is one of the
processes producing genetic variations in Mendelian patterns of inheritance. In Grade 9, you will
focus on describing the location of genes in chromosomes, explain the different patterns of non-
Mendelian inheritance and describe the molecular structure of the DNA.
Overview
Non-Mendelian Patterns of Inheritance
Gregor Mendel's principles form the base for the understanding of heredity and variation.
Although Mendel's work failed to discuss thoroughly the 'factors' or genes he mentioned in his
laws of inheritance, his findings prompted other scientists to probe further into the mystery of
heredity. Several researches were conducted after the rediscovery of Mendel's work.
Walter Sutton and Theodore Boveri became popular because they found the best evidence
that an inherited trait is determined by chromosomes. Chromosome Theory of Inheritance
explained that genes are in the chromosomes.
Mendelian laws of inheritance have important exceptions to them. For example, not all genes
show simple patterns of dominant and recessive alleles.
In this module, you are expected to:
1. Explain the different patterns of non-Mendelian inheritance.
a. Identify characters whose inheritance does not conform with predicted outcomes based
on Mendel's laws of inheritance,
b. Solve genetic problems related to incomplete dominance, codominance multiple alleles
and sex-linked traits; and
c. Identify the law that was not strictly followed in the non-Mendelian inheritance.
2. Describe the location of genes in chromosomes.
a. Explain the chromosomal basis of inheritance; and
b. Identify the components of a DNA molecule.
As you work on different activities in this module, you should be able to answer the following
key questions:
How is non-Mendelian inheritance different from Mendel's observations?
What is the role of DNA in the transmission of traits?
Before you start with the module, be sure to answer the pre-assessment questions.
Pre-assessment:
Answer briefly the following questions:
1. Pink four o'clock flowers are obtained from a cross between pure bred red flower plant and
white flower plant. What is the genotype of the pink flowers?

2. The structure of the DNA is actually in a double helix arrangement. The nitrogen bases in each
of the chain can only pair with specific bases, like adenine pairs only with thymine and cytosine
pairs only with guanine. If the left chain of a DNA molecule has the nucleotide sequence
CCGTAGGCC, what is the sequence of the right chain of the DNA molecule?

3. Read the given problem.

In some aliens, one center horn (A) is codominant with two horns (B). If an alien inherits both
alleles (AB), then the alien has three horns. A recessive allele (0) results in an alien which has no
horns. Can you match the genotype to each of the pictures below? Write the genotype and
phenotype of the four aliens in the box provided.
In the Mendelian patterns of inheritance, the effects of the recessive gene are not observed
when the dominant gene is present. In this lesson, you will find out that certain traits do not
always follow the Mendelian principles of heredity.
1. Incomplete Dominance
In incomplete dominance, a heterozygote shows a phenotype that is intermediate between
the two homozygous phenotypes. Neither allele is dominant over the other.

An example of incomplete dominance is flower color in four o’clock plant, like those shown in
Figure 1. When a pure red-flowered four o'clock plant is crossed with a pure white-flowered four
o'clock plant, the offspring will produce neither red nor white flowers. Instead, all flowers will be
pink.
 Do you think the alleles blended to make pink?
In incomplete dominance, it is only the phenotype that is intermediate. The red and white
alleles remain separate and distinct. Half the gametes of the pink four o'clock carry the allele for
red and half carry the allele for white. Therefore, the genotypic ratio also becomes the
phenotypic ratio.

Figure 1. Punnett square showing a cross between red and white four o’clock flowers
Key Concepts
Incomplete dominance is a form of intermediate inheritance in which one allele for a specific
trait is not completely dominant over the other allele. This results in a third phenotype in which
the expressed physical trait is a combination of the dominant and recessive phenotypes.
Now that you are familiar with incomplete dominance, let us find out what happens when one
allele is completely not dominant over the other.
2. Codominance
Another pattern of inheritance is codominance. This results when one allele is not dominant over
the other. The resulting heterozygotes exhibit the traits of both parents. One example of
codominance is the MN blood typing in humans. On the surface of our red blood cells are
proteins bound to sugar molecules, forming complexes called antigens. One group of antigens
are controlled by a pair of alleles, LIV and LN. The pairing of these alleles will determine the
blood type of an individual and there are three M. MIN and N. Table 1 summarizes the genotypes
and phenotypes of the MMN blood typing in humans.
Table 1: Human MB blood types and their genotypes
Blood Type Genotype
M M
M L L
MN LM LN
N LN LN

Note that in the heterozygote condition, both LM and LN alleles are expressed such that the red
blood cells will have the M and N antigens. Just like in incomplete dominance, the genotypic
ratio in codominance also becomes the phenotypic ratio.
Another good example of codominance is roan fur in cattle as shown in Figure 2. Cattle can be
red (RR = all red hairs), white (WW = all white hairs), or roan (RW = red & white hairs
together).

Figure 2. Codominance in cattle

Key Concepts
In codominance, both alleles are expressed equally in the phenotype of the heterozygote.
For example, red cows crossed with white cows will have offspring that are roan cows. Roan
refers to cows with red hair and white blotches.
Many genes have multiple alleles. An example is ABO blood type in humans.
3. Multiple Alleles
Sometimes, even if only two alleles control a trait, there may actually be more than two
types of alleles available. This will also lead to more than two phenotypes expressed. Another
blood group system in humans, the ABO system, is an example of a character governed by
multiple alleles. Three alleles are responsible for this blood system: 1, 1, and i. The ABO blood
type is determined by the presence or absence of two antigens, A and B. Allele i does not code
for an antigen. There are four possible blood types as shown in Table 2.

The IA and IB alleles are dominant over the i allele, which is always recessive. However, when the
IA and IB alleles are inherited together, both alleles are expressed equally. This also makes IA and BI
codominants of each other.
Key Concepts:
 In humans, there are four blood types (phenotypes): A, B, AB, O. Blood type is controlled
by three alleles: A, B, O.
 O is recessive, two O alleles must be present for a person to have type O blood.
 A and B are codominant. If a person receives an A allele and a B allele, their blood type is
type AB.
The inheritance of some characters does not strictly follow Mendel's Law of Independent
Assortment. There are many traits that are inherited together more frequently. For example, the
expression of certain traits depends on whether one is male or female. Apparently, the expression
of the traits is determined by or related to one's sex.
Sex Chromosomes and Sex Determination
Humans have 46 chromosomes in each cell. Observation of the human body cells pairs
are somatic chromosomes. The 23rd pair consists of sex chromosomes. Human males and some
other male organisms, such as other mammals and fruit flies, have non-identical chromosomes.
sex chromosomes (XY). Females have identical (XX) sex
 How is sex determined and inherited?
Let us study gamete formation based on the sex chromosomes. You will observe in Figure 3
that all egg cells receive an X chromosome; while half of the sperm cells receive X
chromosomes and the other half receive Y chromosomes.

Figure 4. Sex determination

 If an egg is fertilized by a sperm with a Y chromosome, as shown in Figure 4, the
offspring is male. When an egg is fertilized by a sperm carrying an X chromosome, the offspring
is female. Note that there is a 50 percent chance of having a male or female offspring. The
greater the number of offspring, the greater is the chance of getting the expected 1:1 ratio of male
and female.
Key Concept
Males have 44 body chromosomes and two sex chromosomes X and Y. The males
determine the sex of their children. Females have 44 body chromosomes and two sex
chromosomes, both X. The total number in each cell of an individual is 46. These chromosomes
contain the genes, which are the factors of heredity.
Sex-Linked Genes
Genes located on the X chromosomes are called X-linked genes. Genes on the Y
chromosomes are called Y-linked genes. An example of an X-linked trait in humans is
hemophilia. A person suffering from hemophilia could die from loss of blood even from a small
wound because the blood either clots very slowly or does not clot at all. Another example of an
X-linked trait is color blindness. To illustrate the inheritance of an X-linked trait, we will use
color blindness in our discussion. Let us study Table 3. The X chromosome with the gene for
color blindness is represented as X, while the one without is represented as X.

Can you identify the genotype of the female who is color-blind? Notice that for a female
to become color-blind, she must be homozygous (XX) for the color-blind genes. The trait is,
therefore, recessive in females. If a female has only one X chromosome with the allele for color
blindness, she becomes normal but can pass on the trait to her offspring. She is therefore a carrier
of the trait. Since males have only one X chromosome, the gene for color blindness when present
in the male, will always be expressed because it does not have an allele to hide or prevent its
expression. Thus, the male will be color-blind. This is the reason why color blindness is more
common in males than in females.
Figure 5 is an example of a Y-linked trait, hypertrichosis pinnae auris, a genetic disorder
in humans that causes hairy ears. Since the trait is found in the Y chromosome, then only males
can have the trait. A father who has the condition will pass it on to all his sons, and they, in turn,
will pass it on to their own sons.

Key Concepts
 Sex-linked traits are inherited through the X chromosomes.
 Males have only one X chromosome. Thus, if they inherit the affected X, they will have
the disorder.
 Females have two X chromosomes. Therefore, they can inherit/carry the trait without
being affected if it acts in a recessive manner.

Sex-Limited Traits
Sex-limited traits are generally autosomal, which means that they are not found on the X
or Y chromosomes. The genes for these traits behave exactly the same way that any autosomal
gene behaves. The difference here comes in the expression of the genes in the phenotype of the
individual. Sex-limited traits are expressed in only one gender. In cattle, for instance, lactation is
expressed in females but never in males. Both male and female cattle however possess a gene
pair for lactation. The gene for lactation (L) is dominant over the non-lactating gene (0). Table 4
shows the genotypes and phenotypes of the gene for lactation. These genes are carried by both
males and females, but it is only expressed in females. Have you noticed that in female cattle, if
at least one gene pair is for lactation (L), the female produces milk? In male cattle, it does not
matter if they possess one or two genes for lactation. They never produce milk.
Table 4. Expression of Lactation in Cattle
Female Genotypes Female Phenotypes
XXLL Female lactating
XXLI Female lactating
XXII Female not lactating
Male Genotypes Male Phenotypes
XYLL Male not lactating
XYLI Male not lactating
XYII Male not lactating
Source: Functional Biology Modular Approach, Second edition

Sex-Influenced Traits
Sex-influenced traits are also autosomal, it means that their genes are not carried on to
the sex chromosomes. Again, what makes these traits unusual is the way they are expressed
phenotypically. In this case, the difference is in the ways the two genders express the genes.
One classic example of a sex-influenced trait is pattern baldness in humans, though the
condition is not restricted to males. This gene has two alleles, "bald" and "non-bald." The
behaviors of the products of these genes are highly influenced by the hormones in the individual,
particularly by the hormone testosterone. All humans have testosterone, but males have much
higher levels of this hormone than females do. The result is that, in males, the baldness allele
behaves like a dominant allele. while in females it behaves like a recessive allele. Study Table 5
which shows the pattern of expression for baldness.
Table 5. Expression of Pattern Baldness in Humans
Male Genotypes Male Phenotypes
XYBB Male bald
XYBb Male bald
XYbb Male nonbald
Female Genotypes Female Phenotypes
XXBB Female bald
XXBb Female nonbald
XXbb Female nonbald
Source: Functional Biology Modular Approach, Second edition
If you look at the heterozygous gene pair for baldness (Bb), males express baldness, while
females do not. Baldness may be expressed in females but it occurs more frequently in males.
Such trait is sex-influenced because of a substance that is not produced equally in males and
females.
Key Concepts
 Sex-limited traits are those that are expressed exclusively in one sex.
 Sex-influenced traits are expressed in both sexes but more frequently in one than in the
other sex.
DNA is a macromolecule that forms a double helix structure in the cells (mostly in the nuclei and
mitochondria) of living organism. The DNA molecule is considered the genetic material of all
living cells. It is present in bacteria, protists. fungi, plants and animals. DNA is responsible for
determining the specific characteristics of an organism.
DNA: The Genetic Material
A lot have been discussed about chromosomes and the inherited trait that genes produce.
But what are genes? How do they work? After the discovery of the Chromosome Theory of
Inheritance, many questions remained unanswered.
 Of what material are genes made?
 How does the genetic material produce the characteristics of an organism?
 How is the genetic code passed from parents to offspring?
If you recall in Grade 8, all living things contain a genetic material that serves as the set
of instructions that direct the activities and function of the cell. The genetic materials, also
known as the deoxyribonucleic acid or DNA, are passed on from one generation to the next to
ensure continuity of life.
Scientists now know that the genetic material is DNA (Deoxyribonucleic acid). Modern
research techniques helped scientists to answer many questions about DNA and heredity. The
work of earlier scientists gave Watson and Crick a lot of information about DNA. By the end of
the 1940's, scientists had found that DNA consists of long strands of nucleotides. Each
nucleotide contains a pentose sugar called deoxyribose, a phosphate group, and one of the four
compounds called nitrogenous bases. Look at Figure 5. What are the components of the
nucleotide?
 A molecule of deoxyribose joins with phosphate and anyone of the four bases to form a
chemical compound called a nucleotide. A nucleotide is named for the base that joins with the
deoxyribose. For example, if thymine attaches to deoxyribose, the molecule is called a thymine
nucleotide.

The structure of the DNA is actually in a double helix arrangement as shown in Figure 6.
Double helix means that the long two chains of nucleotides are arranged in a spiral like twisted
ladder.
Key Concepts
DNA is composed of chains of nucleotides built on a sugar and phosphate backbone and
wrapped around each other in the form of a double helix. The backbone supports four bases
guanine, cytosine, adenine, and thymine. Guanin and cytosine are complementary, always
appearing opposite each other on the helix, as are adenine and thymine. This is critical in the
reproduction of the genetic material, as it allows a strand to divide and copy itself, since it only
needs half of the material in the helix to duplicate successfully.
Summary
 Many characteristics have more complex inheritance patterns than those studied by
Mendel. They are complicated by factors such as codominance. incomplete dominance,
multiple alleles, and sex-linked traits.
 Incomplete dominance occurs when the phenotype of the offspring is somewhere in
between the phenotypes of both parents; a completely dominant allele does not occur.
 Codominance occurs when both alleles are expressed equally in the phenotype of the
heterozygote.
 Many genes have multiple (more than two) alleles. An example is ABO blood type in
humans. There are three common alleles for the gene that controls this characteristic. The
alleles and makes IA and IB are dominant over i.
 In humans, XX chromosomes determine femaleness and XY determine maleness.
 A sex-linked trait is on the X chromosome. Females have two X chromosomes; they can
inherit or carry the trait without being affected if it acts in a recessive manner.
 Sex-limited traits are those that are expressed exclusively in one sex.
 Sex-influenced traits are expressed in both sexes but more frequently in one than in the
other sex.
 Genes are located in the chromosomes.
 DNA contains the information needed to form and control the physical make-up and
chemical processes of an organism.
 DNA is a double-stranded helix made up of repeating units of nucleotides.
 A nucleotide is composed of the following: sugar and phosphate molecules. and
nitrogenous bases. The base can either be adenine, guanine, thymine, and cytosine.
Glossary
 Allele- a different form of a gene that controls a certain trait.
 Codominance - two dominant alleles of a contrasting pair fully expressed at the same
time in the heterozygous individual.
 Incomplete dominance - occurs when the phenotype of the offspring is somewhere in
between the phenotypes of both parents; a completely dominant allele does not occur.
 Multiple Alleles- when more than two alleles control the inheritance of a character.
 Sex-influenced traits - are expressed in both sexes but more frequently in one sex than
in the other.
 Sex-limited traits - are expressed exclusively in one sex of the species.
 Sex-linked traits - traits that are controlled by genes located on the same sex
chromosome.
 DNA-deoxyribonucleic acid
 Punnett square- the method by which one can determine the possible enotypes and
phenotypes when two parents are crossed.
 Antigen- A substance that when introduced into the body stimulates the production of an
antibody.
 Gamete - are reproductive cells that unite during sexual reproduction to form new cell
called a zygote.