Mendelian Genetics Introduction

to Genotype and Phenotype

Gregor Mendel
– Was the first
person to analyze
patterns of
inheritance
– Deduced the
fundamental
principles of
genetics
DNA Replication
Adenine (A) always base pairs with thymine (T)
Guanine (G) always base pairs with Cytosine
(C)
ALL Down to HYDROGEN Bonding
Requires steps:
H bonds break as enzymes unwind molecule

New nucleotides (always in nucleus) fit into place

beside old strand in a process called
Complementary Base Pairing.
 Genetic Terminology
 Trait - any characteristic that
can be passed from parent to
offspring
 Heredity - passing of traits from
parent to offspring
 Genetics - study of heredity

copyright cmassengale 4
 Allele
Allele: Alternate form of a gene at same
position on pair of chromosomes that affect the
same trait.
Dominant Allele: Capital Letter--O
Recessive Allele: lowercase letter--o
Homozygous Dominant--OO
Homozygous Recessive--oo
Heterozygous--Oo
 Terms:

Phenotype
– An organism’s physical traits

• Genotype
– An organism’s genetic makeup
Genotype is…
our genetic make-up
we cannot see our genes!

We get one copy of our genes

from our mother and one from
our father. The genes on
these chromosomes might
code for different forms of the
same trait. Different forms of
genes are called alleles.
Image retrieved from http://www.emunix.emich.edu/~rwinning/genetics/inherit2.htm
Genotype is determined…
by how the parent’s alleles combine
during reproduction.
Here, the mother has
only the “a” form of the
gene, while the father
has only the “A” form
of the same gene. In
this scenario, the
offspring can have
only one genotype: Aa

Image retrieved from: http://www1.geneticsolutions.com/PageReq?id=3844:1873

Determining Genotypes

Here, each
parent has
both the “A”
and the “a”
allele for this
gene.
The offspring
can have any
of the following
genotypes:
AA, Aa or aa
Image retrieved from: http://www1.geneticsolutions.com/PageReq?id=3844:1873
So what?
The genotype of an organism is the code for
the physical features of the organism
(phenotype) Phenotype is the physical
appearance of the organism

For example, the allele, “A” might code for a

normal skin pigment, while the “a” allele might
code for albinism.
 What is the relationship between
genotype and phenotype?

Image retrieved from http://www.bbc.co.uk/schools/gcsebitesize/biology/variationandinheritance/0dnaandgenesrev5.shtml

Image retrieved from
http://bio1151.nicerweb.com/doc/class/bio1151/Locked/media/ch14/14_06PhenotypeVsGenotype_L.jpg
 Dominant Recessive Dominant Recessive

Pod shape Inflated Constricted

Flower color Purple White

Pod Color Green Yellow

Flower position Axial Terminal

Seed color Yellow Green

Stem length Tall Dwarf

Seed shape Round Wrinkled

 More Terminology
 Genotype - gene combination
for a trait (e.g. RR, Rr, rr)
 Phenotype - the physical
feature resulting from a
genotype (e.g. red, white)

14
How is phenotype determined?
Generally, certain alleles of a gene completely
override other alleles of the same gene (they are
completely dominant).
The allele for a tall plant
is dominant in this
example. If the tall
parent has only tall
alleles, all of its offspring
will receive a tall allele
from this plant. Since
the tall allele is
dominant to the short
Image retrieved from http://web.pdx.edu/~cruzan/Kid
allele, all of the offspring
will be tall.
 Punnett Square
Used to help
solve genetics
problems

16
 Designer “Genes”
 Alleles - two forms of a gene
(dominant & recessive)
 Dominant - stronger of two genes
expressed in the hybrid; represented
by a capital letter (R)
 Recessive - gene that shows up less
often in a cross; represented by a
lowercase letter (r)
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Genotype & Phenotype in Flowers
Genotype of alleles:
R = red flower
r = yellow flower
All genes occur in pairs, so 2
alleles affect a characteristic
Possible combinations are:
Genotypes RR Rr rr
Phenotypes RED RED YELLOW
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 Genotypes
 Homozygous genotype - gene
combination involving 2 dominant
or 2 recessive genes (e.g. RR or
rr); also called pure
 Heterozygous genotype - gene
combination of one dominant &
one recessive allele (e.g. Rr);
also called hybrid
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 P1 Monohybrid Cross
Trait: Seed Shape
Alleles: R – Round r – Wrinkled
Cross: Round seeds x Wrinkled seeds
RR x rr
Genotype: Rr
r r
Phenotype: Round
R Rr Rr Genotypic
Ratio: All alike
R Rr Rr Phenotypic
Ratio: All alike 20
 P1 Monohybrid Cross Review
 Homozygous dominant x
Homozygous recessive
 Offspring all Heterozygous (hybrids)
 Offspring called F1 generation
 Genotypic & Phenotypic ratio is ALL
ALIKE

21
 F1 Monohybrid Cross
Trait: Seed Shape
Alleles: R – Round r – Wrinkled
Cross: Round seeds x Round seeds
Rr x Rr
Genotype: RR, Rr, rr
R r
Phenotype: Round &
RR Rr wrinkled
R
G.Ratio: 1:2:1
r Rr rr P.Ratio: 3:1
copyright cmassengale 22
 Given alleles T(tall) and
t(short)…
-What are the possible genotypes of a tall
plant?

-What are the possible genotypes of

a short plant?
-What would be the phenotype of TT?
-What would be the phenotype of tt?
-What would be the phenotype of Tt?
In a famous
experiment, a man
named Gregor Mendel
mated pea plants.
When he mated a pure
bred smooth seed with
a pure bred wrinkled
seed, he found that the
wrinkled seed
phenotype only
occurred about 25% of
the time.
This happened
because the allele for
smooth seeds (S) is
dominant to the allele
for wrinkled seeds (s).

Image retrieved from http://www.accessexcellence.org/RC/VL/GG/mendel.html

Human Life Cycle
Adults produce gametes--egg and sperm.
Gametes fuse to produce zygote.
Zygote grows and develops to produce baby.
Meiosis--process of division that produces
gametes.
Mitosis--process of replication and division
required for growth.
Adults, zygote and baby--2n. 2n=diploid
Gametes--n. n=haploid
Mitosis
Process of division that produces two daughter
cells with identical chromosomal content of
parent cell.

Mitosis is one stage of the cell cycle.

Cell cycle--cycle of stages a cell goes through

in order to grow and divide.

Stages: I=Interphase, Growth 1=G1, DNA

synthesis=S, Growth 2=G2, Mitosis=M
The Human cell cycle
• Interphase--G1, S, G2
• Mitosis--M
• G1--growth
• S--DNA Synthesis,
replication
• G2--growth
• M:
– mitosis-- nuclear division
– cytokinesis--cell division
Stages of Division- Mitosis
Prophase--nuclear envelope breakdown,
chromosome condensation, spindle formation.
Metaphase--chromosomes are lined up
precisely on the metaphase plate, or middle of
the cell.
Anaphase--spindle pulls sister chromatids
apart.
Telophase--chromatids begin to decondense
and become chromatin. Spindle disappears.
Cytokinesis--divide cell and organelles. Actin
ring, or cleavage furrow splits cell.
Gamete Production -Meiosis

In order to reproduce we must produce

gametes.
Gametes are sperm and egg.
Why is that siblings are not identical?
Meiosis blends DNA from parental
contributions to produce a mixed up
“half” or haploid, set of DNA.
Crossing over is critical for producing
haploid DNA with genetic diversity.
The Process of Meiosis
Interphase

– Haploid gametes are Centrosomes

(with
produced in diploid centriole
pairs)
organisms
– Two consecutive
divisions occur,
meiosis I and
meiosis II, preceded
by interphase
Nuclear
envelope Chromatin

Chromosomes duplicate
 Prophase -I
Replicated pairs of chromosomes
line up side by side.

These pairs are called Homologous-

-both have same gene order (gene
for eye color, hair color, etc).

Sister chromatid from one pair

interact with a Sister chromatid from
another pair.

One sister is from father, one sister

from mother, but they have same
gene order.
Prophase -I
This interaction is called
Synapsis.

Synapsis results in the

formation of a Tetrad
(4 sisters together).

Crossing over swaps

sections of homologous
genes.
 Meiosis - I
Figure 2.9 (1)

Prophase I

Metaphase I

Anaphase I

Telophase I
 Meiosis - II
Figure 2.9 (2)Prophase II

Metaphase II

Anaphase II

Telophase II
 Meiosis I
Meiosis I: Homologous
chromosomes separate
Telophase I
Prophase I Metaphase I Anaphase I
and Cytokinesis
Sites of crossing over Microtubules attached Sister chromatids Cleavage
to Chromosomes remain attached furrow
Spindle

Sister Tetrad Centromere

chromatids

Homologous Tetrads line up Pairs of homologous Two haploid cells

chromosomes chromosomes form: chromosomes
pair and exchange split up are still double
segments
 Meiosis II
Meiosis II:
Sister chromatids separate

Prophase II Telophase II
Metaphase II Anaphase II
and Cytokinesis

Sister chromatids Haploid daughter cells

separate forming

During another round of cell division, the sister chromatids finally separate;
four haploid daughter cells result, containing single chromosomes
Mendel and the relationship between
genotype and phenotype
Click on the link that appears below to see an animation about
Gregor Mendel and the relationship between genotype and
phenotype

**Once you get to the sight, click on animation at the

bottom of the page to see the animation!!**

http://www.dnaftb.org/dnaftb/2/concept/index.html
Go to the following link and see how
changing the genotype of a fictional
dragon will change its phenotype.
http://biologica.concord.org/webtest1/web_
labs_genophenotype.htm
Then go to the following link and watch
the video. This may help you remember
what you have learned.
http://youtube.com/watch?v=EvR_Sdm1or
U