Professional Documents
Culture Documents
Academic Unit IV
Bachelor of Engineering
(Computer Science & Engineering)
Biology For Engineers
21SZT148
By
Dr. Devinder Kaur
DISCOVER . LEARN . EMPOWER
Course Objective
https://www.basicknowledge101.com/photos/2016/
biology_sketches.jpg
2
Course Outcome
CO Title Level
Number
CO1 To develop the firm foundation in science Remember
principles and higher level of understanding in
each of the biology sub-discipline.
CO2 To excel in career as researcher in both Understand
traditional and emerging fields of science .
3
SYLLABUS
Unit-1 Importance of Biology In Engineering Contact Hours: 15
Introduction: Fundamental Differences between Science and engineering by
Chapter 1
drawing a comparison between eye and camera, Bird flying and aircraft.
Significance of Significance of Biology in Engineering, Discuss how biological observations of
Biology in 18th Century that lead to major discoveries, Examples from Brownian motion
Engineering and the origin of thermodynamics by referring to the original observation of
Robert and Julius Mayor.
4
How genetic material passes
from parent to offspring
https://learn.genetics.utah.edu/content/basics/inheritance/
6
Chromosome Theory of Inheritance
This theory was proposed by Walter Sutton and
Theodor Boveri (1902 and 1903)
The two workers found a close similarity between
the transmission of hereditary characters and
behavior of chromosomes while passing from the
one generation to the next through agency of
gametes.
This theory states that individual genes are found at
specific locations on particular chromosomes, and
that the behavior of chromosomes during meiosis
can explain why genes are inherited according to
Mendel’s laws
7
Observations that support the chromosome theory of
inheritance include:
During meiosis, homologous chromosome pairs migrate as discrete structures that
are independent of other chromosome pairs.
The sorting of chromosomes from each homologous pair into pre-gametes appears to
be random.
Each parent synthesizes gametes that contain only half of their chromosomal
complement.
Even though male and female gametes (sperm and egg) differ in size and
morphology, they have the same number of chromosomes, suggesting equal genetic
contributions from each parent.
The gametic chromosomes combine during fertilization to produce offspring with the
same chromosome number as their parents.
8
Concept of Mapping of
Phenotype to Genes
9
Genetic Recombination and Linkage
Linkage is the phenomenon, where two or more linked genes are always
inherited together and their recombination frequency in a test cross progeny is
less than 50%.
A pair of genes may be identified as linked, if their recombination frequency in
a test cross progeny is lower than 50 percent.
Linked genes tend to be inherited together because they are located near each
other on the same chromosome
Each chromosome has hundreds or thousands of genes (except the Y
chromosome)
Genes located on the same chromosome that tend to be inherited together are
called linked genes
10
Genetic Recombination: production of offspring
with new combo of genes from parents
If offspring look like parents Parental types
If different from parents Recombinants
11
Genetic Linkage: If results do not follow Mendel’s Law of
Independent Assortment, then the genes are probably
linked
12
Linked genes: located on same chromosome
and tend to be inherited together during cell
division
13
Crossing over: explains why some linked
genes get separated during meiosis
The further apart 2 genes on same chromosome, the higher
the probability of crossing over and the higher the
recombination frequency
14
New Combinations of Alleles: Variation for
Normal Selection
Recombinant chromosomes bring alleles together in new
combinations in gametes
Random fertilization increases even further the number of
variant combinations that can be produced
This abundance of genetic variation is the raw material upon
which natural selection works
15
INHERITED DISEASES
SINGLE GENE DISORDERS IN HUMANS
CONCEPT OF COMPLEMENTATION USING HUMAN GENETICS
What are inherited diseases?
Inherited diseases are diseases caused by faulty genetic
material that is passed on to future generations. They are
sometimes called genetic disorders.
18
SINGLE GENE DISORDER
• Single gene disorders are caused by DNA changes in one particular gene,
and often have predictable inheritance patterns.
• The mutated version of the gene responsible for the disorder is known as a
mutant, or disease, allele
• Since only a single gene is involved, these disorders can be easily tracked
through families and the risk of them occurring in later generations can be
predicted
• Single gene disorders can be divided into different categories:
• Dominant
• Recessive
• X-linked
19
Dominant Single Gene Disorder
Dominant single gene disorders occurs in the heterozygous state – when an
individual has one mutant copy of the relevant gene and one healthy copy.
◦ The effects of the mutant version of the gene (allele) override the effects of the healthy
version of the gene. So, the mutant allele causes disease symptoms even though a
healthy allele is present.
Dominant disorders tend to crop up in every generation of an affected family
because everyone carrying a dominant mutant allele shows the symptoms of the
disease.
Dominant disorders spread vertically down family trees, from parent to child.
In rare cases when an individual has two copies of the mutant gene (also known as
being homozygous) the disorder symptoms are generally more severe.
20
An example of a autosomal single gene disorder is Huntington’s
disease, which is a disease of the nervous system.
Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown
of nerve cells in the brain.
Huntington’s disease is caused by a single dominant allele, which means that heterozygous
individuals will develop the disease.
The disease causes damage to brain cells, leading to a gradual loss of co-ordination, decline
in mental ability and changes in personality.
21
The symptoms of Huntington’s disease
Symptoms of Huntington’s disease usually begin to develop between the ages of 30 and
50, although they can appear earlier in rare occasions.
Early symptoms include:
◦ Twitching, clumsiness and stumbling
◦ Lack of concentration and memory loss
◦ Depression and mood changes
Huntington’s disease is usually diagnosed from the physical symptoms of the patient and
a family history of the disease
The diagnosis is confirmed by a blood test that detects the Huntington’s disease allele.
This test can also be used in people who have yet to show symptoms but who have a
family history of the disease.
People with the Huntington’s disease allele generally develop the disease later in life, so
they may unknowingly pass the allele on to their children before realizing that they have
the disease.
22
The inheritance of Huntington’s disease
Huntington’s disease (HD) is caused by a dominant allele
People who inherit either one or two copies of the allele develop HD
If a male has HD (he is heterozygous for the disease), but female is unaffected, what is the
chance that their children will have HD?
23
Recessive single gene disorder
Recessive diseases are single gene disorders that only occur in the homozygous state -
when an individual carries two mutant versions (alleles) of the relevant gene.
The effects of the healthy allele can compensate for the effects of the mutant allele.
The mutant allele does not cause disease symptoms when a healthy allele is also
present. However, if a parent inherits two mutant alleles, there are no healthy alleles, so
the mutant allele can exert its effect.
Recessive diseases are more difficult to trace through family trees because carriers of a
mutant allele do not show symptoms of the disease. It therefore appears that the
disease has skipped a generation when it is seen in groups of children within a family.
The risk of an individual having a recessive disorder increases when two people who are
closely related have a child together (consanguinity). This is because there is a much
greater chance that the same mutant allele will be present in related parents.
24
Cystic Fibrosis: Autosomal recessive disorder
Cystic fibrosis (CF) is a common inherited disease that affects the
respiratory and digestive systems by producing abnormally thick mucus.
CF is caused by a single recessive allele on chromosome 7, which lung alveoli
The mucus also clogs the pancreatic duct and blocks enzyme secretion.
◦ This results in poor digestion, causing low weight gain and low energy levels.
25
How is cystic fibrosis inherited?
Cystic fibrosis (CF) is caused by a recessive allele
People who inherit two copies of the allele develop CF
People who inherit just one copy of the allele become carriers of the disease
If two people are both carriers of CF, what is the chance that their children will have
CF?
26
Sickle cell anaemia
Sickle-Cell anaemia is an autosomal single recessive allele disorder that
causes red blood cells to distort and form curved, sickle shapes
Individuals with this disorder have atypical hemoglobin molecules called
hemoglobin S, which can distort red blood cells into a sickle, or crescent,
shape.
Signs and symptoms of sickle cell disease usually begin in early childhood.
Characteristic features of this disorder include shortness of breath, pain
due to blood clots, swelling of hands and feet, frequent infections,
delayed growth, and vision problems.
These are caused the fragile nature of sickle blood cells, which only last 10–
20 days as opposed to about 4 months
a sickle
27
What is sickle cell trait?
People who have just one sickle cell allele are carriers of the allele. The do not have sickle
cell anaemia, but instead have sickle cell trait.
People with sickle cell trait don’t show any symptoms of the condition themselves but
nevertheless have a few sickle blood cells.
In countries in Africa, Asia and Central and South America, the sickle cell allele occurs with
a high frequency.
Why might this be the case?
Many countries in the developing world have a high incidence of
malaria, one of the most common life-threatening diseases in the world
Malaria is caused by infection with a parasite that lives and multiplies in
red blood cells. The parasite is transmitted by mosquito bites.
What advantage might sickle cell trait offer people in countries where
malaria is common?
The shape of sickle cells reduces the ability of the parasite to
reproduce. This results in a resistance to malaria.
28
Howcellisanaemia
Sickle sickle cell anaemia
is caused by a inherited ? on
recessive allele
chromosome 11
People who have two copies of the allele develop sickle cell
anaemia.
People who have just one copy of the allele have sickle cell
trait
29
X-linked disorders
X-linked disorders are single gene disorders that result from the
presence of a mutated gene on the X chromosome
Because females (XX) have two copies of the X chromosome but males
(XY) only have one copy, X-linked disorders are more common in
males. If a male’s single copy on the X chromosome is mutated he has
no healthy copy to restore healthy function
30
Haemophilia
Haemophilia is a recessive sex-linked disease that
mainly affects males.
Haemophilia is an inherited disease that prevents the
body from controlling bleeding properly.
A rare disorder in which your blood doesn't clot normally
because it lacks sufficient blood-clotting proteins (clotting
factors).
People with haemophilia (haemophiliacs) may bleed for a
longer time after an injury than normal people would
because of partly or completely missing a clotting factor
that is needed to make their blood clot properly.
31
The symptoms and treatment of haemophilia
Symptoms of haemophilia include:
◦ Bruising easily
◦ Prolonged bleeding
◦ Spontaneous bleeding
32
How is haemophilia inherited?
Haemophilia is far more common among males than females because it is a recessive (male)
X-linked disease
Males only have one X chromosome, which is inherited from their mother.
Any allele contained within the chromosome, whether it is dominant or recessive, will
always be expressed.
haemophilia
This is because there is only one version of the allele and its effects will therefore not be allele
masked by another version.
What happens if a female inherits one haemophilia allele?
= female
X Y
carrier
The recessive haemophilia allele is masked by the dominant normal allele on the other
X chromosome. The female is therefore not affected by the disease, but is a carrier.
What happens if a female inherits two haemophilia alleles?
34
Muscular Dystrophy
Recessive, sex-linked disorder
35
Concept of complementation
using human genetics
36
Complementation
To complement is to complete or make whole. Genetic complementation restores a normal
phenotype to mutants with some defect.
The phenomenon of complementation is another form of interaction between nonallelic
genes.
◦ For example, there are mutant genes that in the homozygous state produce profound deafness in
humans.
One would expect that the children of two persons with such hereditary deafness would be
deaf.
This is frequently not the case, because the parents’ deafness is often caused by different
genes. Since the mutant genes are not alleles, the child becomes heterozygous for the two
genes and hears normally.
In other words, the two mutant genes complement each other in the child.
Complementation thus becomes a test for allelism.
In the case of congenital deafness cited above, if all the children had been deaf, one could
assume that the deafness in each of the parents was owing to mutant genes that were
alleles.
37
Complementary Epistasis
•R.A.Emerson – 1918
•9:7 ratio Purple:white corn
•Progeny must have at
least 1 copy of dominant
allele to produce purple
seed
39
40
REFERENCES
1. Gupta, P.K.. Cytology, Genetics and Molecular Biology, Rastogi Publishers, Meerut, 1993
2. Singh B.D. 2007. Fundamentals of Genetics. Kalyani Publishers
3. C.B.Powar.2010 .Cell Biology VOL I. Himalaya Publishing House.
4. Robert Weaver. 2012 “Molecular Biology,” 5th Edition, MCGraw-Hill.
5. https://en.wikipedia.org/wiki/Cell_division#:~:text=Cell%20division%20is%20the
%20process,of%20a%20larger%20cell%20cycle
6. https://www.khanacademy.org/science/biology/cellular-molecular-biology
7. https://www.youtube.com/watch?v=NFdeXi9Gfpc
8. http://www.digimat.in/nptel/courses/video/121106008/L13.html
9. https://youtu.be/xsrH050wnIA
41
THANK YOU
For queries
Email: devinder.e11172@cumail.in