Chapter BIOLOGY
5 GENETICS
CHAPTER FIVE: GENETICS
Introduction
Genetics is the study of heredity and the variation of inherited traits.
Our genotype (genetic makeup) controls our phenotype (physical
appearance), personality, health, and even our susceptibility to certain
diseases. The foundations of genetics were laid by Gregor Mendel,
whose experiments with pea plants revealed the basic principles of
inheritance. Later, scientists like Watson and Crick deciphered the
molecular structure of DNA, further advancing our understanding of
genetics. This chapter explores Mendelian and non-Mendelian Figure 1: Gregor Mendel
inheritance patterns, probability in genetics, blood groups, sex
Johann Gregor Mendel (1822–
determination, genetic disorders, and applied genetics.
1884), often called the “father of
genetics,” was a teacher, lifelong
5.1. MENDELIAN GENETICS learner, scientist, and man of faith
Mendel studied the inheritance of seven different features in peas, including height, flower
color, seed color, and seed shape. To do so, he first established pea lines with two
different forms of a feature, such as tall vs. short height. He grew these lines for
generations until they were pure-breeding (always produced offspring identical to the
parent), then bred them to each other and observed how the traits were inherited. In 1865,
Mendel presented the results of his experiments with nearly 30,000 pea plants to the local
Natural History Society. Based on the patterns he observed, the counting data he collected,
and a mathematical analysis of his results.
Figure 2:Mendel method collecting pollen grains & cross over
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Mendel’s Laws of Heredity
Gregor Mendel studied inheritance of traits in pea plants. He proposed a model where
pairs of "heritable elements," or genes, specified traits.
Genes come in different versions, or alleles. A dominant allele hides a recessive allele
and determines the organism's appearance.
When an organism makes gametes, each gamete receives just one gene copy, which is
selected randomly. This is known as the law of segregation.
A Punnett square can be used to predict genotypes (allele combinations)
and phenotypes (observable traits) of offspring from genetic crosses.
A test cross can be used to determine whether an organism with a dominant phenotype is
homozygous or heterozygous.
1. Law of Segregation
Each individual has two alleles for each gene, one from each parent. During gamete
formation, these alleles separate, so each gamete carries only one allele for each gene.
Example: In a monohybrid cross (Pp x Pp),
the offspring will have a 3:1 phenotypic
ratio (3 dominant : 1 recessive).
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5.2. LAWS OF PROBABILITY
1. The rule of multiplication
The second rule and by far the most useful for genetics, deals with the outcome of
independent events. This is called the product rule, or rule of multiplication, and it
states that the probability of two independent events both occurring is the
product of their individual probabilities. We can apply this to a monohybrid cross
in which offspring are formed by gametes from each of two parents. Consider F1
parents. They are all ( Pp) (heterozygotes), so the probability that a particular F2
individual will be ( pp) (homozygous recessive) is the probability of receiving a ( p )
gamete from the male (1/2) times the probability of receiving a ( p ) gamete from the
female (1/2), or 1/4.
Probability of pp homozygote = 1/2p (male parent) x 1/2p (female parent) =
1/4 pp
2. The rule of addition
Consider a six-sided die instead of a coin: for any roll of the die, only one outcome is
possible (1/6) The probability of either of two different numbers is the sum of the
individual probabilities, or restated as the rule of addition.
Probability of rolling either a 2 or a 6 is = 1/6 + 1/6 = 2/6 = 1/3)
To apply this to our cross of heterozygous purple F1, four mutually exclusive
outcomes are possible: PP, Pp, pP, and pp. The probability of being heterozygous is
the same as the probability of being either Pp or pP , or 1/4 + 1/4 or 1/2
Probability of first event or second event is: Probability of first event + possibility of
second event occurring. Figure 5.1 illustrated the Applications on the law of addition
in
prob
abilit
ies
Figure 5.5. Applications on the law of addition in probabilities
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5.3. LOW OF INDEPENDENT ASSORTMENT
Mendel began his experiments to study the inheritance of two or more traits
together, and does the inheritance of one trait affect th eother trait.
Mendel crossed plants that differed in two characteristics, such as flower color and
seed color. The data from these more complex crosses showed that traits produced
by dominant factors do not necessarily appear together. A green seed pod produced
by a dominant factor could appear in a white-flowering pea plant. Mendel concluded
that the factors for individual characteristics are not connected. Recall that the
random separation of homologous chromosomes is called independent assortment.
The law of independent assortment, states that two or more genes assort
independently—that is, each pair of alleles segregates independently of any other
pair of alleles—during gamete formation.
5.4. TEST CROSS
A test cross involves breeding an organism that has the unknown genotype with one
that is homozygous recessive for the desired trait. If the parent’s genotype is
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homozygous dominant, all of the offspring will have the dominant phenotype if it is
heterozygous, the offspring will show a 1:1 phenotypic ratio.
Performing a test cross:
Suppose a breeder wants to produce
hybrid white grapefruits. In grapefruit
trees, white color is the dominant trait
while red is recessive. Therefore, the red
grapefruit trees in the orchard (plantation)
must be homozygous recessive (ww). The
genotype of the hybrid white grapefruit
tree obtained by the breeder can be
homozygous dominant (WW) or
heterozygous (WW) for the white color.
Therefore, the breeder has to perform a
test cross to determine the genotype of the
white grapefruit tree.
5.5. NON-MENDELIAN INHERITANCE PATTERNS
1) Incomplete Dominance
When red-flowered snapdragons (RR) are crossed with
white-flowered snapdragons (rr), the heterozygous
offspring have pink flowers (Rr). This is an example of
incomplete dominance, in which the heterozygous
phenotype is an intermediate phenotype between the two
homozygous phenotypes.
When the heterozygous F1 generation snapdragon
plants are allowed to self-fertilize, as in Figure 5.3, the
flowers are red, pink, and white in a 1:2:1 ratio.
Figure 5.3 The color of snapdragon flowers is a result of
incomplete dominance.
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2. Codominance
Both alleles are expressed themselves equally in the heterozygous condition. For example,
blood group AB follows codominant inheritance.
Sickle-cell disease: The allele responsible for sickle-cell
disease affects red blood cells and their ability to transport
oxygen.
The photograph in Figure shows the blood cells of an
individual who is heterozygous for the sickle-cell trait.
Changes in hemoglobin—the protein in red blood cells—
cause those blood cells to change to a sickle, or “C”, shape
3. Multiple Alleles and polygenic inheritance
Blood groups in humans ABO blood groups have
three forms of alleles, sometimes called AB
markers: IA is blood type A; IB is blood type B; and
i is blood type O. Type O is the absence of AB
markers. Note that allele i is recessive to IA and IB.
However, IA and IB are codominant; blood type AB
results from both IA and IB alleles. Therefore, ABO
blood groups are examples of both multiple
alleles and codominance.
Rh factors are either positive or negative (Rh+ or Rh–); Rh+ is dominant. The Rh factor
is a blood protein named after the rhesus monkey, because studies of the rhesus monkey
led to discovery of that blood
protein.
Blood transfusion
The ABO blood system has a great
medical importance when
transferring blood from one person
to another, and for this to be
successful, the blood type of both
the donor and the recipient must be
determined, as shown in a table. 5.1
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Polygenic inheritance
Polygenic inheritance occurs when one characteristic is controlled by two or more genes.
Often the genes are large in quantity but small in effect. Examples of human polygenic
inheritance are height, skin color, eye color and weight.
5.6. SEX DETERMINATION SYSTEM IN LIVING ORGANISMS
We previously had studied a sex determination system in human
being (XX-XY), and that the 23-sex chromosome pair determines
the sex (XX in the female, XY in the male), meaning that the male
is responsible for determining the sex of the fetus. As for birds and
some types of insects like butterfly, and some types of fish, the
ZZ-ZW system is common, meaning that the female is responsible
for determining sex.
1. Sex-Linked Traits
A sex-linked traits one in which the gene responsible is located on
a sex chromosome, which makes it more common in one sex than
the other. The sex chromosomes, X and Y, carry genes that control
sexual development. In addition they carry genes that control other
characteristics.
Duchenne muscular dystrophy
(DMD) is an X-linked recessive
disorder, meaning the gene
causing the disease is located on
the X chromosome. Because
males only have one X
chromosome, if they inherit the
affected gene from their mother,
they will develop
DMD. Females have two X
chromosomes, so they can be
carriers of the DMD gene
without showing symptoms.
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2. Sex-influenced Traits
With a sex-influenced trait, an allele is dominant in one sex but recessive in the other.
Such a gene may be X-linked or autosomal. The difference in expression can be caused
by hormonal differences between the sexes. For example, an autosomal gene for hair
growth pattern has two alleles, one that produces hair all over the head and another that
causes pattern baldness. The baldness allele is dominant in males but recessive in
females, which is why more men than women are bald. A heterozygous male is bald, but a
heterozygous female is not. A bald woman is homozygous recessive. Even a bald woman
tends to have some wisps of hair, whereas an affected male may be completely hairless
on the top of his head.
5.7. GENETIC MAPS
Gene mapping, also known as genetic mapping or genome mapping, is the technique of finding
the relative positions and linear order of genes on a chromosome. Gene mapping offers critical
information about the order, position, and distance between genes inside a genome.
Gene mapping aids in the diagnosis, prevention, and therapy of genetic illnesses by locating the
location of disease-causing genes.
Types of Gene Mapping
Genetic mapping and physical mapping are two primary types of gene mapping techniques
used by scientists. Here’s a brief explanation of each:
FISH Mapping
(Fluorescence In Situ
Hybridization)
STS Mapping (Sequence
Tagged Site Mapping)
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Genetic Mapping (Linkage Mapping): Genetic mapping determines the relative positions of
genes on a chromosome based on their patterns of inheritance and recombination. It relies on
analyzing how genes are transmitted together or separately from one generation to the next. By
studying the frequency of recombination events between genes, researchers can create a
genetic map that orders genes along a chromosome. Genetic maps are measured in genetic
distance units, such as centimorgans (cM). Genetic mapping is particularly useful for studying
traits and diseases that exhibit genetic linkage.
5.8. GENETIC DISORDERS
Sometimes mutations lead to a change in the nucleotide sequence of a specific gene, so
that special instructions (the genetic code) are changed to make a protein, and therefore
the result is either an ineffective protein for not building this protein properly or not
manufacturing it, and this leads to a Genetic Disorder.
1. Alteration in Chromosome Structure
Gene Mutations
Gene mutation is permanent change in the sequence of nitrogenous bases that form a
specific gene either by deletion, duplication, inversion and translocation. See Figure
Some examples of a genetic disorder that is related to genetic mutations are:
a. Krabbe Disease
A genetic disease caused by a recessive gene mutation on chromosome number 14, and
causing damage to the myelinated neurons. Symptoms of the disease appear before the
child reaches six months. Symptoms include difficulty feeding, fever, stunted growth,
muscle cramps, hearing and vision loss, and loss of swallowing. In most cases, children
die before reaching the second year of life.
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b) Phenylketonuria PKU
A genetic disease caused by a recessive gene mutation on chromosome number 12,
leading to a lack of production of the enzyme phenylalanine hydroxylase. The
accumulation of phenylalanine in the blood and other body tissues, especially the brain,
causes severe mental retardation and late in development in children.
2) Alteration of Chromosome Number
When there is a change in the number of chromosomes, it will lead to different types of
genetic disorders these include:
Nondisjunction
Nondisjunction occurs when members of a pair of homologous chromosomes do not
move apart properly during meiosis I or sister chromatids fail to separate during meiosis
II (Figure ). It results in daughter cells with abnormal chromosome number.
If either of the abnormal gametes unites with a normal one at fertilization, the zygote will
also have an abnormal number of a particular chromosome, a condition known as
aneuploidy.
Monosomy is a form of aneuploidy with the absence of one member of a pair of
chromosomes. Human conditions due to monosomy include Turner syndrome.
Trisomy refers to the presence of three copies, instead of the normal two, of a particular
chromosome. The presence of an extra chromosome 21, which is found in Down
syndrome, is called trisomy 21
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Polyploidy: Some organisms have more than two complete chromosome sets in all
somatic cells. The general term for this chromosomal alteration is polyploidy; the
specific terms triploidy (3n) and tetraploidy (4n) indicate three and four chromosomal
sets, respectively. Many species we eat are polyploid: Bananas are triploid, wheat
hexaploid (6n), and strawberries octoploid (8n). Polyploid animal species are much less
common, but there are a few fishes and amphibians known to be polyploidy
Activity:
Search from internet: Down Syndrom Edwards Syndrom Turner Syndrom
Selective Breeding
The process by which desired traits of certain plants and animals are selected and passed
on to their future generations is called selective breeding. Through the processes of
hybridization and inbreeding, desired traits can be passed on to future generations.
Figure 5.11 illustrates selective breeding
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Hybridization : Hybrid results in crossing parent organisms with different forms of traits
to produce offspring with specific traits. Farmers, animal breeders, scientists, and
gardeners widely use.
Inbreeding : This process, in which two closely related organisms are bred to have the
desired traits and to eliminate the undesired ones in future generations, is called
inbreeding
Inbreeding depression is the reduced biological fitness in a given population as a result
of inbreeding, or breeding of related individuals.
Population biological fitness refers to an organism’s ability to survive and perpetuate
(maintain) its genetic material. In general, the higher the genetic variation or gene pool
within a breeding population, the less likely it is to suffer from inbreeding depression.
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