Course Code: 18BTC111A Course Title: Principles of Transmission Genetics

Course Code: 18BTC111A
Course Title: PRINCIPLES OF TRANSMISSION GENETICS
Course Leader: Dr. Rohini Keshava

rohini.bt.ls@msruas.ac.in
1
Faculty of Life and Allied Health Sciences © Ramaiah University of Applied Sciences
Lecture No 1
History of Genetics - An overview of modern
history of Genetics
At the end of this lecture, the student will be able to:
• Outline the history of genetics
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Content
• Before Mendel
• Mendelism
• Post-Mendel
• Rediscovery of Mendel’s work and after
• History of Genetics – Time line
3
Before Mendel
• Most influential early theories of heredity were that of

Hippocrates and Aristotle
• Hippocrates suggested that the heredity material is collected from

throughout the body
• Aristotle suggested instead that the, form-giving principle of an

organism was transmitted through semen (which he considered to
be a purified form of blood) and the mother's menstrual blood,
which interacted in the womb directed an organism's early
development
4
Mendelism
Modern history of genetics began with the work of Gregor Johann
Mendel
Gregor Mendel (1822–1884)

5
Contd…
• Gregor Mendel, known as the "father of modern genetics“
• Born in Austria in 1822
• Austrian monk
• Discovered the basic principles of heredity through - experiments in his
monastery's garden
• Mendel's observations became the foundation of modern genetics and
the study of heredity
• He is widely considered as a pioneer in the field of genetics
• His experiments showed that the inheritance of certain traits in pea
plants follows particular patterns
• Gregor Mendel developed the model of heredity by experiments on
various characteristics of pea plants:
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7
Faculty
©M. S. of Life and
Ramaiah Allied Health
University Sciences
of Applied Sciences © Ramaiah University of Applied Sciences
• In 1865, Mendel delivered two lectures on his findings to the
Natural Science Society in Brünn, who published the results of his
studies in their journal the following year (1866), under the
title Experiments on Plant Hybridization
• It is now known as the Mendelian inheritance/Mendelism
8
Post-Mendel
• Pangenesis
– Darwin's theory of heredity, pangenesis
– The theory suggested as follows:
• Every part of the body emits tiny particles, gemmules, which

migrate to the gonads and contribute to the fertilized egg and
so to the next generation
• A more mathematical version of pangenesis, was developed by

Darwin's cousin, Francis Galton
9
Contd…
Diagram of Charles Darwin's pangenesis theory
10
Contd…
• Germ plasm theory
– In 1883 August Weismann conducted experiments involving

breeding mice whose tails had been surgically removed
– His results showed that surgically removing a mouse's tail had

no effect on the tail of its offspring
– He proposed the germ plasm theory of inheritance
11
Contd…
12
Contd…
• August Weismann's germ plasm theory

– The hereditary material, the germ plasm, is confined to the
gonads
– Somatic cells (of the body) develop newly in each generation
from the germ plasm
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• The year 1900 marked the "rediscovery of Mendel’s work" by Hugo
de Vries, Carl Correns and Erich von Tschermak
• By 1915 the basic principles of Mendelian genetics had been applied

to a wide variety of organisms—most notably the fruit fly Drosophila
melanogaster
• Led by Thomas Hunt Morgan, geneticists developed the Mendelian

model, which was widely accepted by 1925
• In the 1940s and early 1950s, experiments pointed to DNA as the

portion of chromosomes that held genes
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Contd…
• A focus on new model organisms such as viruses and bacteria, along
with the discovery of the double helical structure of DNA in 1953,
marked the transition to the era of molecular genetics
• Development of techniques for sequencing both proteins (1955) and
nucleic acids (1970s)
• Relationship between the two forms of biological molecules i.e., DNA
and proteins: the genetic code – was discovered in 1960s
• The regulation of gene expression became a central issue in the
1960s; by the 1970s gene expression could be controlled and
manipulated through genetic engineering
• In the last decades of the 20th century, many biologists focused on
large-scale genetics projects - sequencing entire genomes
15
Contd…
17
Basic terms in Genetics
• Factor: Based on his studies of pea plants, Mendel inferred that

heredity traits were transmitted from generation to generation as
discrete units called factors, which are now called genes
• Gene - A segment of a DNA molecule that codes for the synthesis of
a single polypeptide
• Chromosome -Rod-shaped structures within the cell nucleus that
carry genes encoded by DNA
• Haploid number of chromosomes -The number of chromosomes
found in sex cells, which in humans is 23
• Diploid number of chromosomes - The number of chromosomes
found in somatic cells, which in humans is 46
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• Homologous chromosomes - A matched pair of chromosomes, one
from each parent
• Locus -The location of allelic genes on the chromosome, e.g., A, B,
and O genes occur at the ABO locus. (Plural = loci)
• Allele: An alternative form of a gene that occurs at the same locus
on homologous chromosomes, e.g., A, B, and O genes are alleles
• Heterozygous - The situation in which allelic genes are different,
(Tt)
• Homozygous - The situation in which allelic genes are identical,
e.g., TT or tt
• Hemizygous - Inheritance of an X-linked gene in males, e.g. the
gene for hemophilia A is said to be hemizygous in males since they
have only one X chromosome
19
• Somatic chromosome - A non-sex chromosome (soma=body). Synonym is
autosome
• X-chromosome - The sex chromosome present in double dose in females
(XX) and in single dose in males (XY)
• Y-chromosome - The sex chromosome present only in males (XY)
• Karyotype - A photomicrograph of all the chromosomes in a person,
arranged in standard classification
• Linkage - Genes are said linked if they are on the same chromosome
within a measurable distance of each other and are normally inherited
together
• Sex-linked - Synonymous for X-linked
• X-linked - Genes on the X chromosome, e.g., genes for hemophilia A,
hemophilia B etc.
21
• Mapping of genes - A variety of processes that include discovering that
a gene is linked to another gene (which can serve as a marker for it),
assigning genes to particular chromosomes, assigning genes to specific
regions on chromosomes, and determining nucleotide sequences on
chromosomes
• Meiosis - The type of cell division that occurs in sex cells by which
gametes having the haploid number of chromosomes are produced
from diploid cells
• Gamete - A reproductive sex cell (ovum or sperm) with the haploid

number (23) of chromosomes that results from meiosis
• Mitosis - Cell division that results in the formation of two cells, each
with the same number of chromosomes as the parent cells, i.e., cell
division that forms all new cells except sex cells
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• Mutation - A permanent inheritable change in a single gene (point
mutation) that results in the existence of two or more alleles
occurring at the same locus. Blood group polymorphism has been
caused by mutations occurring over long periods of time
• Nondisjunction - The failure of two members of a chromosome pair

to disjoin during anaphase. For example, an offspring with the AB/O
genotype can be produced if a group AB male mates with a group O
female and nondisjunction happens in the father
• Gene interaction - The situation in which genes inherited at

different loci interact to produce a phenotype
23
Lecture No 2
General concepts of Genetics - Classical, Molecular
& Evolutionary
At the end of this lecture, the student will be able to:
• Outline the aspects of classical, molecular and evolutionary

genetics
24
Genetics
• Genetics is, generally, the study of genes, genetic

variation, and heredity
25
Classical Genetics
• Classical genetics is the branch of genetics based solely on visible

results of inheritance
• It is the oldest discipline in the field of genetics
• Experiments on inheritance by Gregor Mendel who made it

possible to identify the basic mechanisms of heredity
– The process by which characteristics are passed down from

parents to their offspring is called heredity
• A key discovery of classical genetics in eukaryotes was genetic

linkage
26
Molecular Genetics
• Molecular genetics is the field of biology that studies the structure

and function of genes at a molecular level and thus employs
methods of both molecular biology and genetics
• The study of chromosomes and gene expression of an organism

gives insight into heredity, genetic variation, and mutations
– This is useful in the study of developmental biology and in

understanding and treating genetic diseases
27
Evolutionary genetics
• Evolutionary genetics includes population genetics
• Population genetics is a subfield of genetics that deals with genetic

differences within and between populations, and is a part of
evolutionary biology
• Studies in this branch of biology examine such phenomena as

adaptation, speciation, and population structure
28
Mendel’s laws of heredity
1. The law of segregation

2. The law of Dominance
3. The law of independent assortment
29
Contd…
• The law of segregation:

– Each inherited trait is defined by a gene pair
– Parental genes are randomly separated/segregated to the sex
cells/gametes such that the gametes contain only one gene of
the pair
– Offspring therefore inherit one genetic allele from each parent
during fertilization
30
Contd…
• The law of Dominance

– An organism with alternate forms of a gene/allele, will express
the form that is dominant
31
Contd…
• The law of Independent Assortment

– Genes for different traits are sorted separately from one
another such that the inheritance of one trait is not dependent
on the inheritance of another
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33
Mendel’s hybridization experiments
• Monohybrid cross
– A monohybrid cross is a genetic cross between parents that
differ in the alleles they possess for one particular gene
– One parent having two dominant alleles and the other having
two recessive alleles
– All offspring (called monohybrid) have one dominant and one

recessive allele for that gene, i.e., they are hybrid at that one
locus
– E.g. Tall (TT) X short (tt)

34
Contd…
• Dihybrid cross
– Dihybrid cross is a cross between two different lines (varieties,
strains) that differ in two observed traits
– Between the alleles of both these loci there is a relationship of

complete dominance-recessive
– All offspring (called dihybrid) have one dominant and one

recessive allele at two different loci, i.e., they are hybrid at two
loci
– E.g. Round and Yellow (RRYY) X wrinkled and green (rryy)

35
Monohybrid cross
36
Contd…
37
Faculty
©M. S. of Life and
University Sciences
38
Faculty
©M. S. of Life and
University Sciences
Dihybrid cross
39
Faculty
©M. S. of Life and
University Sciences
40
Faculty
©M. S. of Life and
University Sciences
41
Faculty
©M. S. of Life and
University Sciences
Applications of Mendel’s laws
• Mendel’s principles can be used to predict the outcomes of crosses

between different strains of organisms
• To predict the characteristics of offspring produced by parents of

known genetic composition
• To predict the pattern of inheritance in humans
• To solve genetic problems
42
References
• Strickberger, M.W., 2015, Genetics, 3rd edition, Pearson Education

India.
• Klug, W.S., Cummings, M.R., Spencer, C.A., Palladino, M.A., 2016,
Concepts of Genetics, 10th edition, Pearson Education India.
• Gardner, E.J., Simmons, M.J., Snustad, D.P., 2006, Principles of
Genetics, 8th edition, Wiley.
• Tamarin, R.H., 2017, Principle of Genetics, 7th Edition, McGraw Hill
Education.
43
Disclaimer
• All data and content provided in this presentation are taken from
the reference books, internet – websites and links, for
informational purposes only.
44

Course Code: 18BTC111A Course Title: Principles of Transmission Genetics

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Course Code: 18BTC111A Course Title: Principles of Transmission Genetics

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Copyright:

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Course Code: 18BTC111A

Course Title: PRINCIPLES OF TRANSMISSION GENETICS

Course Leader: Dr. Rohini Keshava

At the end of this lecture, the student will be able to:

• Outline the history of genetics

• Most influential early theories of heredity were that of

• Hippocrates suggested that the heredity material is collected from

• Aristotle suggested instead that the, form-giving principle of an

Gregor Mendel (1822–1884)

• It is now known as the Mendelian inheritance/Mendelism

– Darwin's theory of heredity, pangenesis

– The theory suggested as follows:

• Every part of the body emits tiny particles, gemmules, which

• A more mathematical version of pangenesis, was developed by

Diagram of Charles Darwin's pangenesis theory

• Germ plasm theory

– In 1883 August Weismann conducted experiments involving

– His results showed that surgically removing a mouse's tail had

– He proposed the germ plasm theory of inheritance

• August Weismann's germ plasm theory

• By 1915 the basic principles of Mendelian genetics had been applied

• Led by Thomas Hunt Morgan, geneticists developed the Mendelian

• In the 1940s and early 1950s, experiments pointed to DNA as the

• Factor: Based on his studies of pea plants, Mendel inferred that

• Gamete - A reproductive sex cell (ovum or sperm) with the haploid

• Nondisjunction - The failure of two members of a chromosome pair

• Gene interaction - The situation in which genes inherited at

At the end of this lecture, the student will be able to:

• Outline the aspects of classical, molecular and evolutionary

• Genetics is, generally, the study of genes, genetic

• Classical genetics is the branch of genetics based solely on visible

• It is the oldest discipline in the field of genetics

• Experiments on inheritance by Gregor Mendel who made it

– The process by which characteristics are passed down from

• A key discovery of classical genetics in eukaryotes was genetic

• Molecular genetics is the field of biology that studies the structure

• The study of chromosomes and gene expression of an organism

– This is useful in the study of developmental biology and in

• Evolutionary genetics includes population genetics

• Population genetics is a subfield of genetics that deals with genetic

• Studies in this branch of biology examine such phenomena as

1. The law of segregation

• The law of segregation:

• The law of Dominance

• The law of Independent Assortment

– All offspring (called monohybrid) have one dominant and one

– E.g. Tall (TT) X short (tt)

– Between the alleles of both these loci there is a relationship of

– All offspring (called dihybrid) have one dominant and one

– E.g. Round and Yellow (RRYY) X wrinkled and green (rryy)

• Mendel’s principles can be used to predict the outcomes of crosses

• To predict the characteristics of offspring produced by parents of

• To predict the pattern of inheritance in humans

• To solve genetic problems

• Strickberger, M.W., 2015, Genetics, 3rd edition, Pearson Education

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