This document provides information about genetics and Mendelian inheritance. It begins with an introduction to important figures in the history of genetics like Gregor Mendel. It then discusses the three main theories of inheritance pre-Mendel and the history of genetics including Mendel's experiments and laws of inheritance. The rest of the document details various genetics concepts like linkage, crossing over, aneuploidy and their relationships to chromosomes and inheritance patterns.
Heredity or Hereditary is the process of passing the traits and characteristics from parents to offsprings.
The offspring cells get their features and characteristics aka genetic information from their mother and father.
Molecular basis of inheritance, Patterns of genetic transmission, Gene mutation, structure of chromosome, chromosomes in Man, Genetic disorders, Numerical disorders, structural disorder, Genetics in an orthodontic perspective, Butler's field theory, methods of studying role of genes.
Heredity or Hereditary is the process of passing the traits and characteristics from parents to offsprings.
The offspring cells get their features and characteristics aka genetic information from their mother and father.
Molecular basis of inheritance, Patterns of genetic transmission, Gene mutation, structure of chromosome, chromosomes in Man, Genetic disorders, Numerical disorders, structural disorder, Genetics in an orthodontic perspective, Butler's field theory, methods of studying role of genes.
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
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2. INTRODUCTION
• Father of GENETICS – Gregor Johann Mendel
• Term GENETICS was coined by - Bateson (1905)
• Heredity
• Inheritance
• Gene
• Genetics
• Sexual reproduction
• Mutations - Variations
3. HISTORY
• De Vries, Correns, Tschermak
• 6000 B.C. ago Assyrians and Babylonians –
Pedigree of Horses / Cross pollination of Dates
• Phenomenon of Inheritance explained by
THREE theories
1. Vapour and Fluid Theory
2. Preformation Theory
3. Particulate Theory
4. 1. Vapour and Fluid Theory
• ARISTOTLE in 350 B.C - Mother develops
the inert matter for the baby birth and Father
gives motion to the New life.
• HIPPOCRATES in 400 B.C – All parts of the
Body contribute to the REPRODUCTION.
• PYTHGORAS in 500 B.C – Male body
produces some moist vapour – So Offspring
have some Male characters.
5. 2. Preformation Theory
• LEEUWENHOEK – Sperm provide the Life
and Ova provide the Nourishment to the
developing Embryo.
• SWAMMERDAM – Sperm and Ova consists
of Miniature copy of the Adults –
Development of Embryo is the Enlargement
of the parts already present in Sperm or Ova.
6. 3. Particulate Theory
• CHARLES DARWIN – Pangenesis Theory – Gemmules/Pangenes
in the Reproductive Organs - Development of Baby.
• GALTON and AUGUST WEISMAN – Theory of Germplasm-
Somatic cells/Germ Cells (Germplasm).
• GREGOR JOHAN MENDEL – Laws of Inheritance.
• SUTTON – Chromosome theory of Inheritance.
• JOHANNSEN – Phenotype/Genotype concept.
• T.H.MORGAN – Theory of Linkage.
• JACOB and MONAD – Gene Regulation - Operon concept.
• NIRENBERG and Associates – Genetic Code of DNA.
11. Mendel’s Laws of Inheritance
• Mendel worked for 8 years (1956-64) and
published the work
• “Experiments in Plant Hybridization” – Annual
proceedings of Natural History Society of
Brunn.
12. Reasons – Why Scientists overlooked
Mendel’s work…!
• Mathematical principles of probability and
binomial distribution.
• Inheritance of Contrasting pairs of characters
exhibit discontinuous variations.
• Failed to work on Hieraceum and Honey bees
15. Mendel’s Laws
1. Law of Segregation : Every organism consists
of TWO ALLELS for each TRAIT, these alleles get
separated during gamet formation (Meiosis), so
each gamet contains only one Allele.
16. 2. Law of Independent Assortment :
During gamet formation, each pair of Allele
segregate independent of another.
3. Law of Dominance :
Alleles are Dominant / Recessive; With at least
one Dominant allele shows its effect by masking
the recessive allele.
17. P – Parents – Cross pollination of Pure Breeds
to get F1 – Self Pollination of F1
Heterozygotes to get F2 offspring
Phenotype Ratio - 3:1
Genotype Ratio – 1:2:1
MonoHybrid
Cross
19. MonoHybrid Test Cross
If Test cross offspring are ALL DOMINANT,
then the parent is HOMOZYGOUS
If Test cross offspring are 1:1, then the
parent is HETEROZYGOUS
20. DiHybrid Test Cross
If Test cross offspring are ALL DOMINANT,
then the parent is HOMOZYGOUS
If Test cross offspring are 1:1:1:1, then the
parent is HETEROZYGOUS
21. Back Cross
Back crossing is a crossing of a F1 hybrid with one
of its parents
or
an individual genetically similar to its parent, in
order to achieve offspring with a genetic identity
which is closer to that of the parent.
25. Penetrance
• The percentage of individuals expressing the
character for a particular Genotype.
1. Complete penetrance: 100% individuals. Eg –
Mendel’s tall (TT) and dwarf plants in Pea.
2. Incomplete or reduced penetrance: Few
individuals. Eg – Blue eyes (BB) in Human – 90%.
26. The percentage of individuals expressing the character for a particular
Genotype.
1. Complete penetrance: 100% individuals. Eg – Mendel’s tall (TT) and
dwarf plants in Pea.
2. Incomplete or reduced penetrance: Few individuals. Eg – Blue eyes (BB)
in Human – 90%.
Factors influencing penetrance:
1. Age.
2. Diet – Food.
3. Environmental factors – Light, temperature.
4. Epigenetics.
27. Pleotropism
• Production of many characters (multiple effect) by a
single Gene.
• Anti- Thesis of Mendel.
Example I
pp : phenylketonuria – accumulation of phenylalanine in the
blood.
i. Mental retardation.
ii. Widely spaced incisors.
iii. Pigmented patches on skin.
iv. Excessive sweating.
v. Non-pigmented hairs and eyes.
28. Example II
• Potato mutant gene – suppresses the growth
of…
i. Meristematic tissue.
ii. Axillary shoot.
iii. Petals.
• It produces…
i. Apocarpous pistil.
ii. Dialatory anthers.
29. Epistasis
• Prevention of the expression of one gene by another non-allelic
gene
• Inhibiting Gene – Epistatic gene.
• Inhibited Gene – Hypostatic gene.
• Two types:
1. Dominant epistasis : Prevention of the expression of a gene by a
Dominant non-allelic gene. Eg: White and color feathers in Fowls.
2. Recessive epistasis : Prevention of the expression of a gene by a
Recessive non-allelic gene. Eg: Coat color in Mice.
31. 2. Recessive epistasis:
Mice – 3 color patterns
a. Agouti – grey – two dominant genes B & A
b. Black – one dominant gene B, bb – Recessive epistatic gene over A.
c. Albino – white – one recessive a
Ratio – 9:3:4
34. Chromosomal theory of Inheritance – T.H.Morgan
• Genes present on a Single chromosome=
Linkage group
• No. of Linkage group = No. of Chromosome pair
• Law of Independent Assortment is not applicable
with Linked Genes.
35.
36.
37.
38. Chromosomes as Physical basis of Heredity
1. Similarities between Chromosomes and
Genes:
a. Two copies in somatic cell and one copy in
Gametes
b. Replication
c. Segregation during Meiosis
d. Mutations
2. Studies on Sex Chromosomes: XX/XY type
3. Linkage studies
4. Aneuploidy
5. Crossing over
6. Biochemical studies
39. Chromosomal theory of Inheritance
1. Chromosomes acts as bridges between one generation
to next.
2. Both sperm and egg contribute equally in Heredity.
3. Nucleus contains chromosomes.
4. Every chromosome have definite role.
5. Chromosome number, structure, individuality retains
same.
40. 6. Both Chromosome as well as Gene occur in Pairs.
7. A Gamete contains only one set of Chromosome.
8. Paired condition is restored after fertilization.
9. Genetic Homogeneity/Heterogeneity, Dominance/Recessive
can be suggested by chromosome type and behavior.
10. Synapse formation during Meiosis and separation maintains
quantitative basis for segregation and Independent Assortment.
11. Sex determined by Sex Chromosomes.
41. Linkage
1. The phenomenon of inheritance of Genes together and
to retain their Parental combination even in the
offspring.
2. Tendency of Two or More genes to stay together during
inheritance.
3. Linked GENES – Linked Characters.
42.
43. Coupling and Repulsion
• Coupling : Bateson and Punnet crossed a homozygous
sweet pea (Lathyrus odoratus),
• Dominant Allele : BB – Blue petals, LL – Long pollen
grains.
• Recessive Allele : bb – Red petals, ll – Round pollen
grains.
• According to Law of Independent Assortment :
BL/Bl/bL/bl gametes are obtained.
• Test cross ratio of F2 should be – 1:1:1:1, but it is
7:1:1:7.
• The tendency of the alleles coming from same parent to
enter the same gamete and to inherit together is called
Gametic coupling.
45. Repulsion
• Blue flowers and Round pollen (Bl/Bl) was crossed with
Red flower and Long pollen (bL/bL).
• F1 hybrid are Bl/bl – Blue long Heterozygous
• Test cross with bl/bl – Red round Homozygous
• Test cross Ratio should be 1:1:1:1, but it is 1:7:7:1.
• Two dominant Alleles and Two recessive Alleles repelled
each other because they came from different parents.
• Bl and bL genotypes were more by Repulsion.
47. Chromosome theory of Linkage
1. Genes located on the same chromosome are inherited
together and show linkage.
2. The linked Genes are arranged in a linear fashion in the
chromosome.
3. The degree of linkage is determined by the distance
between the two genes. Linkage strength is inversely
proportional to the distance between the two genes.
Closely related genes show strong linkage, while genes
widely located show weak linkage.
48. 4. Linked Genes show two types of arrangement in
Heterozygous individuals.
a. Cis-arrangment – Coupling phase
b. Trans-arrangment – Repulsion phase
49. Kinds of Linkage
1. Complete Linkage : These Genes are closely
associated and do not separate to for NEW or NON
PARENTAL combinations.
Eg : Complete linkage in Drosophila.
2. Incomplete Linkage : These Genes lead to formation of
New or NON PARENTAL combinations.
Eg : Incomplete linkage in Maize.
50. Grey Body – B
Black Body – b
Normal Wings – V
Vestigial Wings – v
Complete Linkage
Grey Body Normal Wings : 50%
Black Body Vestigial Wings : 50 %
51. Incomplete Linkage
Coloured – C
Full – S
Colourless – c
Shrunken – s
Parental Type : 96.4 %
Recombinant Type :
3.6 %
53. Crossing over
“The exchange of homologous segments between non-sister
chromatids of Homologous chromosomes.”
Frequency of Crossing over (%)=
No. of Recombinants from a Test cross
Total No. of Progeny in the Test cross
Map units = % of Frequency of Crossing over (cM-CentiMorgan)
X 100
54. Mechanism of Crossing over
• Occurs during Gametogenesis – Meiosis I –
Prophase I – Zygotene.
• Chromosomes moves side by side and
Homologous regions pair to form BIVALENT by
SYNAPSIS.
• Pachytene – Each chromosome in bivalent split
to form Sister-Chromatids. Bivalent have four
Chromatid – Tetrad – X like – CHAISMATA.
• Endonuclease – Chromatid breaks at Chaisma.
• Ligase – Fusion of Chromatid.
• Non-sister chromatid repel – Diplotene –
Desynapsis – End of Tetrad – Terminalization
• Diakinesis – Chromatid get shortened.
55. Stern’sExperiment-Cytologicalproof Dominant:
Red eye – C
Bar – B
1. Canration and Bar Female
– Broken X and No Y
fragment.
2. Red and Round Female –
Unbroken X and attached Y
fragment.
3. Carnation and Round
Female – Unbroken X and
No attached Y fragment.
4. Red and Bar – Broken X
and attached Y fragment.
Recessive:
Carnation – c
Round - b
Female:
X- c B-Broken
X- C b –A fragment of Y
