GENETICS – branch of biology
that deals with heredity and
variation of organisms.
Chromosomes carry the
hereditary information (genes)
Arrangement of nucleotides in DNA
DNA → RNA → Proteins
Chromosomes (and genes) occur
in pairs
Homologous Chromosomes
New combinations of genes
occur in sexual reproduction
oFertilization from two parents
Austrian Monk, born in what is now
Czech Republic in 1822
Son of peasant farmer, studied
Theology and was ordained
priest Order St. Augustine.
Went to the university of Vienna,
where he
studied botany and learned the
Scientific Method
Worked with pure lines of peas for
eight years
Prior to Mendel, heredity was
regarded as a "blending"
process and the offspring were
essentially a "dilution"of the different
parental characteristics.
In 1866 he published
Experiments in Plant
Hybridization, (Versuche über
Pflanzen-Hybriden) in which he
established his three Principles of
Inheritance
He tried to repeat his work
in another plant, but didn’t
work because the plant
reproduced asexually! If…
Work was largely ignored for
34 years, until 1900, when
3 independent botanists
rediscovered Mendel’s work.
Mendel was the first biologist to
use Mathematics – to explain his
results quantitatively.
Mendel predicted
The concept of genes
That genes occur in pairs
That one gene of each pair is
present in the gametes
Punnett Square
A useful tool to do genetic crosses
For a monohybrid cross, you need a
square divided by four….
Looks like
a window
pane…
We use the
Punnett square
to predict the
genotypes and phenotypes of
the offspring.
STEPS:
1. determine the genotypes of the parent
organisms
2. write down your "cross" (mating)
3. draw a p-square
4. "split" the letters of the genotype for each
parent & put them "outside" the p-square
5. determine the possible genotypes of the
offspring by filling in the p-square
6. summarize results (genotypes & phenotypes
of offspring)
Key to the Punnett Square:
Determine the gametes of each
parent…
How? By “splitting” the
genotypes of each parent:
MENDEL’S PRINCIPLES
1. Principle of Dominance:
One allele masked another, one
allele was dominant over the other
in the F generation.
1
2. Principle of Segregation:
When gametes are formed, the
pairs of hereditary factors (genes)
become separated, so that each sex
cell (egg/sperm) receives only one
kind of gene.
HUMAN CASE: CF
Mendel’s Principles of Heredity
apply universally to all
organisms.
Cystic Fibrosis: a lethal genetic
disease affecting Caucasians.
Caused by mutant recessive gene
carried by 1 in 20 people of
European descent (12M)
One in 400 Caucasian couples
will be both carriers of CF – 1 in
4 children will have it.
CF disease affects transport
in tissues – mucus is accumulated
in lungs, causing infections.
3. Principle of Independent
Assortment:
“Members of one gene pair
segregate independently from other
gene pairs during gamete formation”
Genes get shuffled – these many
combinations are one of the
advantages of sexual reproduction
When you have an individual with an
unknown genotype, you do a test
cross.
Test cross: Cross with a homozygous
recessive individual.