GENETICS
Introduction to Genetics
• 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
– Fertilization from two parents
Gregor Johann Mendel
• 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.
Mendel’s peas
• Mendel looked at seven traits or characteristics of
pea plants:
• 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
Genetics terms you need to know:
• Gene – a unit of heredity;
a section of DNA sequence
encoding a single protein
• Genome – the entire set
of genes in an organism
• Alleles – two genes that occupy the same position
on homologous chromosomes and that cover the
same trait (like ‘flavors’ of a trait).
• Locus – a fixed location on a strand of DNA
where a gene or one of its alleles is located.
• Homozygous – having identical genes (one
from each parent) for a particular characteristic.
• Heterozygous – having two different genes for
a particular characteristic.
• Dominant – the allele of a gene that masks or
suppresses the expression of an alternate allele;
the trait appears in the heterozygous condition.
• Recessive – an allele that is masked by a
dominant allele; does not appear in the
heterozygous condition, only in homozygous.
• Genotype – the genetic makeup of an organisms
• Phenotype – the physical appearance
of an organism (Genotype + environment)
Mendel’s Principles
• 1. Principle of Dominance:
One allele masked another, one allele was
dominant over the other in the F1 generation.
• 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.
Monohybrid cross
• Parents differ by a single trait.
• Crossing two pea plants that differ in stem size,
one tall one short
T = allele for Tall
t = allele for dwarf
TT = homozygous tall plant
t t = homozygous dwarf plant
TT tt
Monohybrid cross for stem length:
P = parentals TT tt
true breeding, (tall) (dwarf)
homozygous plants:
F1 generation Tt
is heterozygous: (all tall plants)
Another example: Flower color
For example, flower color:
P = purple (dominant)
p = white (recessive)
If you cross a homozygous Purple (PP) with a
homozygous white (pp):
PP pp
Pp ALL PURPLE (Pp)
Monohybrid cross: F2 generation
• If you let the F1 generation self-fertilize, the next
monohybrid cross would be:
Tt Tt
(tall) (tall)
Genotypes:
1 TT= Tall
T t 2 Tt = Tall
1 tt = dwarf
Genotypic ratio= [Link]
T TT Tt
Phenotype:
3 Tall
t Tt tt 1 dwarf
Phenotypic ratio= 3:1
Principle of Independent Assortment
• Based on these results, Mendel postulated the
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
Dihybrid crosses
• Matings that involve parents that differ in two
genes (two independent traits)
For example, flower color:
P = purple (dominant)
p = white (recessive)
and stem length:
T = tall t = short
Dihybrid cross: flower color and
stem length
TT PP tt pp
(tall, purple) (short, white)
Possible Gametes for parents tp tp tp tp
T P and t p TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
F1 Generation: All tall, purple flowers (Tt Pp)
Dihybrid cross
9 Tall purple
TP Tp tP tp
TP TTPP TTPp TtPP TtPp
3 Tall white Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
3 Short purple
Phenotype Ratio = [Link]
1 Short white
Dihybrid cross: 9 genotypes
Genotype ratios (9): Four Phenotypes:
1 TTPP
2 TTPp Tall, purple (9)
2 TtPP
4 TtPp
1 TTpp
Tall, white (3)
2 Ttpp
1 ttPP
Short, purple (3)
2 ttPp
1 ttpp Short, white (1)
Incomplete Dominance
Snapdragon flowers come in many colors.
If you cross a red snapdragon (RR) with a white
snapdragon (rr)
RR rr
You get PINK flowers (Rr)!
Genes show incomplete dominance
when the heterozygous phenotype
Rr
is intermediate.
Incomplete dominance
When F1 generation (all pink flowers) is self
pollinated, the F2 generation is [Link]
red, pink, white
Incomplete Dominance
R r
R R R Rr
r Rr rr
Summary of Genetics
• Chromosomes carry hereditary info (genes)
• Chromosomes (and genes) occur in pairs
• New combinations of genes occur in sexual
reproduction
• Mendel’s Principles:
– Dominance: one allele masks another
– Segregation: genes become separated in gamete formation
– Independent Assortment: Members of one gene pair
segregate independently from other gene pairs during gamete
formation
