Lecture 1 - Introduction and Mendelian Genetics - Lectures

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Genetics – FO 201

Mr. Imakando C. I.
BScED (UNZA), MSc Ecology (PSU – Thailand)

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Course outline
• Phenotypes and genotypes.
• Mendelian inheritance/genetics
• Chromosome basis of heredity,
• Chromosome behaviour. = Mitosis and meiosis.
• Linkage and chromosome mapping.
• The chemical basis of heredity.
• Biochemical genetics, multiple alleles, pseudo-alleles.
• Gene structure, DNA and RNA.
• The genetic code, genes and gene action, gene interaction.
• Chromosome changes. Mutations.
• Cytoplasmic inheritance.
• Quantitative inheritance and selection theory.
• Heritability and heterosis.
• Elementary population genetics.
• Genetic engineering in plant biotechnology.
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What is genetics

• Genetics -- is that branch of biology concerned with


heredity and variation of organisms

• Gene -- fundamental units of heredity consisting of


a DNA sequence

• Genetics is the study of genes.

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• Gene

• DNA + protein matrix

• Chromosome (nucleus of cells)

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Definitions of terms
• Allele – An alternative form of a gene (one member of a pair)
that is located at a specific position on a specific
chromosome. E.g. Aa – (Aa aka allelic pair)
• Genotype. The genetic composition of an individual.
• Phenotype. The observable or measurable characteristics of
an individual. (it is the outward, physical appearance of a
particular trait)
• Heterozygous. Having two different alleles (e.g. Aa)
governing a single phenotypic trait. A hybrid corn plant, for
example, is heterozygous at every locus (e.g. Aa Bb Cc Dd...).
• Homozygote -- Having two alleles on homologous
chromosomes that are identical for a given gene.
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Definitions of terms cont.,
• Dominant gene. A gene whose phenotype is
expressed when the allele is present as either one
or two copies of the pair (e.g. AA or Aa).
• Recessive gene. A gene whose phenotype is
expressed only when it is present as two copies of
both alleles (e.g. aa).
• Incomplete dominant genes -- Genes that are
neither completely dominant nor recessive and
which only contribute to a certain characteristic
(e.g. pink color in flowers)
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Definitions of terms cont.,
• Inherit -- In genetics, to receive genetic material
from parents through biological processes.
• Locus (pl. loci) The position on a chromosome of a
gene or other chromosome marker; also, the DNA
at that position. The use of locus is sometimes
restricted to mean expressed DNA regions.

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Definitions of terms
cont.,
• DNA. Deoxyribonucleic acid, the hereditary material in
living organisms.
• RNA. Ribonucleic acid.
• Chromosome. A complex DNA chain that contains
genetic information. Chromosomes occur as paired sets
throughout the genome[complete set of genetic material
of humans, animals and plant or any living organism] .
• Base. A single nucleotide; adenine (A), thymine (T),
guanine (G), and cytosine (C).
• Base pair. The bonded structure between two
complementary nucleotides; e.g. A-T or C-G.
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Definitions of terms
cont.,
• Autosome -- A chromosome not involved in sex
determination.
• Carrier -- An individual who possesses a mutant
allele but does not express it in the phenotype,
either because of a dominant allelic partner or
because the mutation is non penetrant.
• Cytogenetics -- The study of the physical
appearance of chromosomes.

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Definitions of terms
• Exon -- The protein-coding DNA sequence of a gene.
• Intron -- noncoding DNA sequence: a section of
DNA that is not expressed in the gene product.
• Genetic code -- The sequence of nucleotides, coded
in triplets (codons) along the mRNA, that
determines the sequence of amino acids in protein
synthesis.

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Definitions of terms

• Mutation -- Any heritable change in DNA sequence.


A process by which genes undergo a structural
change.
• Trait -- Any detectable phenotypic property of an
organism.
• Mitosis--Division of a body cell into two duplicate
body cells
• Meiosis--Division of a sex cell producing a cell or
cells containing only one of each gene and
chromosome pair
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Definitions of terms
• Lethal gene -- Genetic factor that causes death of
the young during prenatal life, at birth or soon after
• F1 -- Symbol which represents the first cross from a
mating
• F2 -- Symbol which represents second cross from a
mating
• Gamete -- Mature germ cell, egg or sperm
• Fertilization -- Union of the egg and sperm
• Zygote -- Fertilized egg
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Characteristics Of Organisms Used
For Genetic Studies

• good genetic background


• easy to grow
• controlled mating possible
• can be genetically engineered
• funding available

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Examples of organisms:
1. Viruses
• easily grown in culture
• rapid generation time
• encode only a few the proteins, which permit a
detailed analysis of well-defined system
• some viruses have control mechanisms found in
eukaryotic species
• can be genetically engineered
• lack organized chromosome
• not all genetic features can be extrapolated to other
organisms
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Examples of organisms:
2. Escherichia coli
• easily grown in culture
• rapid generation time
• many mutants available
• many genes involved
• life cycle very well defined
• relatively simple to generate new mutants
• can be genetically engineered
• contain a rudimentary chromosome
• not all genetic features can be extrapolated to higher
organisms
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Examples of organisms:
3. Human
• intense public interest and funding available
• relatively well-mapped for most eukaryotic
• species
• many diseases (mutant phenotypes)
• understood clinically
• well-defined cytogenetic system (physical appearance of
chromosomes)
• long generation time
• many traits can only be studied in cell culture
• cannot make controlled crosses
• cannot
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be genetically engineered 20
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Examples of organisms:
4. Drosophila
• short generation time for a eukaryotic
• organisms (two weeks)
• availability of many mutants controlling specific phenotypes
• large chromosomes with well-defined cytogenetic system
• survives well in the lab and matings are easily performed
• currently, the best organism to study developmental
genetics
• transposable elements can be manipulated to clone genes
• can be genetically engineered

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Examples of organisms:
5. Maize
• Best mapped plant species
• Many mutants are available that control seed traits
• Well-defined cytogenetic system
• Transposable elements well understood and can be used to
clone genes
• Matings tedious, but produce many (hundreds) of progeny
• Only three generations per year
• Cannot be easily genetically engineered
• Not well funded

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Assignment question

• Define Meiosis and Mitosis (4 marks). What are the


differences between meiosis and mitosis (16 marks).

• Instructions:
– Use at least three (3) references (books or journal articles).
– Note more than two pages typed (Font 12, Times New Romans,
1.5 spacing).
– Due Date: 5th August, 2014 (14.00hrs, when coming for class)

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MENDELIAN GENETICS

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Mendelian Genetics
 Gregor Mendel published the results of his genetic
studies on the garden pea in 1866 and thereby laid
the foundation of modern genetics.
 Mendel's pea plants exhibited the following
phenotypes:
- round or wrinkled seed phenotype
- yellow or green seed phenotype
- red or white flower phenotype
- tall or dwarf plant phenotype
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Mendel’s genius: two innovations to the science of
genetics:

1. developed pure lines

2. counted his results and kept statistical notes

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Basic genetic principle proposed by Mendel.

1. Principle of segregation

2. Principle of independent assortment

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Principle of segregation
• States that during gamete formation each member
of the allelic pair separates from the other member
to form the genetic constitution of the gamete (e.g.
Aa)
• Meaning from any one parent, only one allelic form
of a gene is transmitted through a gamete to the
offspring.

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Principle of segregation
• For example, a plant which had a factor (or gene)
for round-shaped seed and also an allele for
wrinkled-shaped seed would transmit only one of
these two alleles through a gamete to its offspring.

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Principle of segregation

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2. Principle of independent assortment

• States that -- the segregation of one factor pair


occurs independently of any other factor pair
(AABB)
• This is only true when; one homologous pair of
chromosomes are the seed shape alleles and on
another pair of homologues are the alleles for green
and yellow seed color.

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2. Principle of independent assortment

• The segregation of the seed shape alleles occurs


independently of the segregation of the seed color
alleles because each pair of homologues behaves as
an independent unit during meiosis.
• Furthermore, because the orientation of bivalents on
(he first meiotic metaphase plate is completely at
random, four combinations of factors could be found
in the meiotic products: (1) round-yellow, (2)
wrinkled-green, (3) round-green, (4) wrinkled yellow.
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• Dihybrid cross - a cross between two parents that
differ by two pairs of alleles (AABB x aabb)
• Dihybrid- an individual heterozygous for two pairs
of alleles (AaBb)
• Again a dihybrid cross is not a cross between two
dihybrids. Now, let's look at a dihybrid cross that
Mendel performed.

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• Parental Cross: Yellow, Round Seed x Green, Wrinkled Seed

• Choose Symbol Seed Color: Yellow = G; Green = g

• Seed Shape: Round = W; Wrinkled = w

• F1 Generation: All yellow, round

• F2 Generation: 9 Yellow, Round, 3 Yellow, Wrinkled, 3 Green,


Round, 1 Green, Wrinkled

• At this point, let's diagram the cross using specific gene


symbols.
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Cross the F1 gamates to get F2
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End of introduction and Mendelian genetics

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Next topic:

Chromosome basis of heredity

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• Terms and definitions
• Q. Heritability--Percentage of differences in a trait
that can be
• explained by inheritance as opposed to
environment
• R. Dwarfism--Inherited characteristic of cattle
resulting in
• small, deformed animals

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