GENETICS, MUTATIONS AND
GENETIC DISORDERS
MODULE 1
GENETICS
• Genetics is a branch of biology concerned with the study of genes,
genetic variation, and heredity in organisms.
• Genetics may be defined as the study of genes at all levels, including
the ways in which they act in the cell and the ways in which they are
transmitted from parents to offspring.
GENE
GENE
• Genes are a set of instructions that determine what the organism is
like, its appearance, how it survives, and how it behaves in its
environment.
• Genes are made of a substance called deoxyribonucleic acid, or DNA.
• They give instructions for a living being to make molecules called
proteins.
FUNCTIONS OF GENES?
• Each gene has a special job to do.
• The DNA in a gene spells out specific instructions for making
proteins in the cell.
• Proteins are the building blocks for everything in your body.
• Bones and teeth, hair and earlobes, muscles and blood, are
all made up of proteins.
• Those proteins help our bodies grow, work properly, and stay
healthy.
• Scientists today estimate that each gene in the body may
make as many as 10 different proteins. That's more than
300,000 proteins!
Where do they (genes) come from?
• A gene is a basic unit of heredity in a living organism.
• Genes come from our parents.
• We may inherit our physical traits and the likelihood of getting certain
diseases and conditions from a parent.
• Genes contain the data needed to build and maintain cells and pass
genetic information to offspring.
• Each cell contains two sets of chromosomes: One set comes from the
mother and the other comes from the father.
• The male sperm and the female egg carry a single set of 23 chromosomes
each, including 22 autosomes plus an X or Y sex chromosome.
• Autosomes control the inheritance of all an organism's characteristics
except the sex-linked ones, which are controlled by the sex chromosomes.
AUTOSOMES AND SEX CHROMOSOMES
CHARACTERSTICS OF GENES
LOCATION OF GENES
• Long strands of DNA with lots of genes make up chromosomes.
• DNA molecules are found in chromosomes.
• Chromosomes are located inside of the nucleus of cells.
CHARACTERSTICS OF GENES
CHARACTERSTICS OF GENES
CHARACTERSTICS OF GENES
Numbers of chromosomes
• Different living things have different shapes and numbers of
chromosomes.
• Humans have 23 pairs of chromosomes, or a total of 46.
• A donkey has 31 pairs of chromosomes, a hedgehog has 44, and a
fruit fly has just 4.
MODERN CONCEPT OF GENE
MODERN CONCEPT OF GENE
RECON
• The smallest segment of DNA that can be capable of being separated
and exchange with other chromosome is called recon.
• A recon consists of not more than two pairs of nucleotides.
Muton
• Muton means the smallest unit in a chromosome that can be changed
by mutations.
• Each recon may have several mutons within them
Thus, a gene may have one more than one
cistrons, a cistron may have several recons, and a
recon may have several mutons.
FUNCTIONS OF GENES
FUNCTIONS OF GENES
FUNCTIONS OF GENES
DNA
DNA
• DNA is a group of molecules that is
responsible for carrying and transmitting the
hereditary materials or the genetic
instructions from parents to offsprings.”
• DNA was first recognized and identified by
the Swiss biologist, Johannes Friedrich
Miescher in 1869 during his research on
white blood cells.
• The double helix s t r u c t u r e o f a D N A
molecule was later discovered through the
experimental data by James Watson and
Francis Crick.
• F i n a l l y, i t w a s p r o v e d t h a t D N A i s
responsible for storing the genetic
information in living organisms.
DNA STRUCTURE
• DNA is having a double-helix
structure.
• The DNA molecule is composed of
units called nucleotides, and each
nucleotide is compose d of thre e
different components, such as sugar,
phosphate groups and nitrogen bases.
• The sugar and phosphate groups link
the nucleotides together to form each
strand of DNA.
• DNA comprises a sugar-phosphate
backbone and the nucleotide bases
(guanine, cytosine, adenine and
thymine).
DNA STRUCTURE
• These 4 Nitrogenous bases pair
together in the following way: A
with T, and C with G.
• These base pairs are essential for
the DNA’s double helix structure,
which resembles a twisted ladder.
• The two strands of DNA run in
opposite directions.
• These strands are held together by
the hydrogen bond that is present
between the two complementary
bases.
ESSENTIAL FEATURES OF GENETIC MATERIAL
ESSENTIAL FEATURES OF GENETIC MATERIAL
Mendel’s Principles
Mendel’s Experiment
• Mendel is known as the father of genetics because of his ground-
breaking work on inheritance in pea plants 150 years ago.
• Gregor Johann Mendel was a monk and teacher with interests in
astronomy and plant breeding.
• At 21, he joined a monastery
• The monastery had a botanical garden and library and was a centre for
science, religion and culture.
• In 1856, Mendel began a series of experiments at the monastery to
find out how traits are passed from generation to generation.
• At the time, it was thought that parents’ traits were blended together in
their progeny.
Why was Pea Plant Selected for Mendel’s
Experiments?
• He selected a pea plant for his experiments:
1.The pea plant can be easily grown and maintained.
2.They are naturally self-pollinating but can also be cross-
pollinated.
3.It is an annual plant, therefore, many generations can be
studied within a short period of time.
4.It has several contrasting characters.
Mendel’s Experiment
• Mendel conducted 2 main experiments to determine the laws of
inheritance. These experiments were:
1. Monohybrid Cross Experiment
2. Dihybrid Cross Experiment
• While experimenting, Mendel found that certain factors were always
being transferred down to the offspring in a stable way.
• Those factors are now called genes i.e. genes can be called the units
of inheritance.
MONOHYBRID CROSS
• In this experiment, Mendel took two pea plants of opposite traits
(one short and one tall) and crossed them.
• For monohybrid cross, Mendel began with a pair of pea plants with
two contrasting traits, i.e., one tall and another dwarf.
• The cross-pollination of tall and dwarf plants resulted in tall plants.
All the hybrid plants were tall.
• He called this as a first hybrid generation (F1) and offspring were
called F1 progeny.
MONOHYBRID CROSS
• He continued his experiment with self-pollination of F1 progeny plants.
• Surprisingly, he observed that one out of four plants were dwarf while the
other three were tall.
• The tall and the short plants were in the ratio of 3:1.
• He also noted that no progeny was in intermediate height, i.e., no blending
was observed.
• The result was the same for other traits of plants too, and he called them
second hybrid generation and the offspring were called F2 progeny.
MONOHYBRID CROSS- Mendel’s Findings
• Mendel observed that traits which were absent in F1
generation had reappeared in the F2 generation.
• He called such suppressed traits as recessive traits
and expressed traits as dominant traits.
• He also concluded that some ‘factors’ are inherited by
o f fs p r i n g f ro m t h e i r p a r e n t o v e r s u c c e s s i v e
generations.
Dihybrid Cross Experiment
• In a dihybrid cross experiment, Mendel considered two traits,
each having two alleles.
• He crossed wrinkled-green seed and round-yellow seeds and
observed that all the first generation progeny (F1 progeny) were
round-yellow.
• This meant that dominant traits were the round shape and
yellow colour.
• He then self-pollinated the F1 progeny and obtained 4 different
traits round-yellow, wrinkled-yellow, round-green, wrinkled-
green seeds and in the ratio 9:3:3:1.
Dihybrid Cross Result
MENDEL’S LAWS
• The two experiments lead to the formulation of Mendel’s laws known
as laws of inheritance which are:
• Law of Dominance
• Law of Segregation
• Law of Independent Assortment
MENDELIAN PRINCIPLES
1. Law of Dominance
• This is also called Mendel’s first law of inheritance.
• This law states that in a heterozygous condition, the allele whose characters are
expressed over the other allele is called the dominant allele and the characters of
this dominant allele are called dominant characters.
• According to the law of dominance, hybrid offsprings will only inherit the dominant
trait in the phenotype.
• The alleles that are suppressed are called as the recessive traits while the alleles
that determine the trait are known as the dormant traits.
• “When parents with pure, contrasting traits are crossed together, only one form
of trait appears in the next generation. The hybrid offsprings will exhibit only
the dominant trait in the phenotype.”
MENDELIAN PRINCIPLES
2. Law of Segregation
• Law of segregation is the second law
of inheritance.
• The law of segregation states that during the production of gametes, two
copies of each hereditary factor segregate so that offspring acquire one
factor from each parent.
• Alleles for a trait are then recombined during fertilization, producing the
genotype for the traits of the offspring.
• In other words, allele (alternative form of the gene) pairs segregate during
the formation of gamete and re-unite randomly during fertilization.
• The law of segregation states that every individual possesses two alleles
and only one allele is passed on to the offspring.
MENDELIAN PRINCIPLES
3. Law of Independent Assortment
• Also known as Mendel’s Third law of inheritance, the law of
independent assortment states that a pair of trait segregates
independently of another pair during gamete formation.
• As the individual heredity factors assort independently, different
traits get equal opportunity to occur together.
• The law of independent assortment states that the inheritance of
one pair of genes is independent of inheritance of another pair.
(Law of independent assortment leads to
a 9:3:3:1 ratio)
SEX - LINKED, SEX – LIMITED,
SEX-INFLUENCED CHARACTERS
• Some traits are carried on the sex chromosomes, X and Y.
• Most traits carried are present on only the X-chromosome.
• The Y-chromosome is smaller, and so, very few genes are
located on this chromosome.
• Individuals having two X chromosomes (XX) are female;
i n d i v i d u a l s h av i n g o n e X c h ro m o s o m e a n d o n e Y
chromosome (XY) are male.
• Sex traits can be categorized into three types of inheritance:
1. Sex-limited,
2. Sex-linked, and
3. Sex-influenced.
Sex Limited Trait
• Sex-limited genes are genes that are present in both sexes of sexually
reproducing species but are expressed in only one sex and have no
penetrance, or are simply 'turned off' in the other.
• Sex-limited genes cause the two sexes to show different traits or phenotypes,
despite having the same genotype.
• This term is restricted to autosomal traits.
• Such trait affects a structure or function of the body of males or females only.
For example:
1. Genes for milk production in dairy cattle affect only cows.
2. Beard growth in humans is limited to men. A woman does not grow a
beard hersell. But she can pass the genes of heavy beard growth to her
sons.
3. Egg laying trait is limited to females only such as birds and some other
animals.
• Sex-limited genes are responsible for sexual dimorphism, which is a
phenotypic (directly observable) difference between males and
females of the same species regardless of genotype.
• These differences can be reflected in size, color, behavior (ex: levels
of aggression), and morphology.
• Another example of sex-limited genes are genes which control horn
development in sheep: while both males and females possess the
same genes controlling horn development, they are only expressed
in males.
SEX LINKED TRAIT
WHY IT’S HAPPENEING ?
• Some traits are carried on the sex chromosomes, X
and Y.
• Most traits carried are present on only the X-
chromosome.
• The Y-chromosome is smaller, and so, very few genes
are located on this chromosome.
• Individuals having two X chromosomes (XX) are
female; individuals having one X chromosome and
one Y chromosome (XY) are male.
SEX LINKED TRAIT
• For example, color blindness is a sex-linked trait whose allele is recessive
and located on the X chromosome.
• When the mother is color blind and the father is not, all sons are going to be
color blind.
• The daughters are going to be normal but carriers of the gene.
• Conversely, when the father is color blind and the mother is not, all sons
and daughters are normal but the daughters will be carriers of the gene.
SEX LINKED TRAIT
• Sex hormones and other physiologic differences between males and
females effect on expression of certain gene.
• For example, premature baldness is an autosomal dominant trait. But
this condition is rarely expressed in the female due to female sex
hormones.
• It appears in them only after menopause.
SEX INFLUENCED TRAIT
HOMOZYGOUS AND HETEROZYGOUS
• Homozygous and heterozygous are terms that are used to describe
allele pairs.
• Individuals carrying two identical alleles (RR or rr) are known as
homozygous.
• While individual organisms bearing different alleles (Rr) are known as
heterozygous.
• Mutations are hereditary changes in genetic material and are rare,
random, and sudden events.
They can be:
• Dominant: if they affect a dominant allele;
• Recessive: if they affect a recessive allele.
TYPES OF MUTATION
TYPES OF MUTATION
1. Somatic mutations
2. Gametic mutations
3. Point mutations
4. Spontaneous mutations
5. Induced mutations
6. Dominant mutations
7. Recessive mutations and
8. Silent mutations
SOMATIC MUTATIONS
• Somatic mutations can occur in any of the cells of the body except the germ
cells (sperm and egg) and therefore are not passed on to children.
• Mutations in somatic cells can affect the individual, but they are not passed
on to offspring.
• Mutations in somatic cells are called somatic mutations.
• Examples of somatic cells are cells of internal organs, skin, bones, blood and
connective tissues.
• Somatic mutations may occur in any cell division from the first cleavage of
the fertilized egg to the cell divisions that replace cells in a senile individual.
• A major part of an organism, such as the branch of a tree or a complete
tissue layer of an animal, may carry the mutation; it may or may not be
expressed visibly.
• Somatic mutations can give rise to various diseases, including cancer.
SOMATIC MUTATION
• The yellow coloured part of this
tulip petal is the result of a
somatic mutation.
• Only a part of the organism is
affected as not all the cells
have inherited the mutation.
• This mutation most likely
occurred during the flower’s
development in a single cell
that grew and divided to form
the yellow part of the flower.
POINT MUTATION
POINT MUTATION
• A point mutation is a type of mutation in DNA or RNA, the cell’s
genetic material, in which one single nucleotide base is added,
deleted or changed .
• A point mutation is a mutation that only affects a single nucleotide of
nucleic acid.
• DNA and RNA are made up of many nucleotides.
• There are five different molecules that can make up nitrogenous bases
on nucleotides: cytosine, guanine, adenine, thymine (in DNA) and
uracil (in RNA), abbreviated C, G, A, T, and U.
• Point mutations are frequently the result of mistakes made during
DNA replication, although modification of DNA, such as through
exposure to X-rays or to ultraviolet radiation, also can induce point
mutations.
Sickle-cell Anemia - POINT MUTATION
• Sickle-cell anemia is a recessive disorder caused by a single
substitution in the gene that creates hemoglobin, which carries
oxygen in the blood.
• Sickle cell disease is caused by a mutation in the hemoglobin-Beta
gene found on chromosome 11.
Cystic fibrosis (CF) – POINT MUTATION
• Cystic fibrosis (CF) is a disorder that affects mostly
the lungs, but also the pancreas, liver, kidneys, and
intestine.
• It occurs due the deletion of nucleotides in the
Cystic Fibrosis Transmembrane Conductance
Regulator (CFTR), protein helps to maintain the
balance of salt and water on many surfaces in the
body, such as the surface of the lung.
• When the protein is not working correctly, chloride -
- a component of salt -- becomes trapped in cells.
Without the proper movement of chloride, water
cannot hydrate the cellular surface.
• This leads the mucus covering the cells to become
thick and sticky which leads to breathing difficulty
and coughing , and a shortened life expectancy
(about 42-50 years in developed countries).
Spontaneous mutations
Induced mutations
• Dominant Mutations & recessive mutations
• Dominant mutations lead to a mutant phenotype in the presence of a
normal copy of the gene.
• The phenotypes associated with dominant mutations may represent
either a loss or a gain of function.
Silent Mutation
• A silent mutation is a change in the sequence of nucleotide bases
which constitutes DNA, without a subsequent change in the
amino acid or the function of the overall protein.
• Sometimes a single amino acid will change, but if it has the same
properties as the amino acid it replaced, little to no change will
happen.
• A silent mutation can be caused many ways, but the key point is
that it does not change the function of the amino acid or
subsequent proteins.
• A silent mutation is just that: it does nothing significant, not
making a sound in the orchestra of the cell.
• Silent mutation do not cause any disease, because they do not
alter the organism itself.
