Heredity: why we are not the

same as our siblings*.

*unless we are an identical twin

Heredity:

1) Children resemble their parents

2) Sibling are not identical

 In the Language of Genetics

• For a given character (height, color, shape

etc.) offspring share traits (tall, red, oval)
with their parents.

• Sibling do not have identical traits for a

given character.
Heredity in action
 Gregor Mendel showed that
heredity has predictable
patterns that result from laws
(rules of heredity).

His success in defining these

patterns/rules were a result of
an astutely designed
experiment.

He did this before the

Gregor Mendel (1822-1884) discovery of chromosomes and
karyotypes.
 Types of Variation
• Continuous Variation: there are a seemingly
infinite number of traits for a given character.
These traits fall along a continuous spectrum (i.e.
height, skin color). Led to the idea of “Blended
inheritance”.
• Discrete Variation: there are only two or a few
traits for a given character. (fur color in mice).
Continuous variation
 Continuous variation and bell
curves

Band members arranged by height (feet:inches), women in

white and men in black. Note the height distribution across a
continuous spectrum.
 Types of Variation
• Continuous Variation: there are a seemingly
infinite number of traits for a given character.
These traits fall along a continuous spectrum (i.e.
height, skin color). Led to the idea of “Blended
inheritance”.
• Discrete Variation: there are only two or a few
traits for a given character. (fur color in mice).
Discrete
Variation:

Albino mother with

black and
agouti(mottled
brown) pups –
three discrete fur-
color traits.
Discrete pea traits
Controlled crosses:

Mendel was able to control

precisely which plants were
crossed to which other
plants.
 Mendel used true-breeding
(inbred) strains

• A round pea plant that always gave round

peas when fertilizing itself.

• A wrinkled pea plant that likewise always

gave wrinkled peas.
 One trait for a given
Let: R = Round trait character is dominant.
In the F1 generation
w = wrinkled trait you only see the
dominant trait
First cross:

P0 (parental generation): Rxw

F1 (1st filial (progeny) generation): 253 Round

Cross the F1s:

F1 x F1 RxR

F2 (2nd filial generation): 5,474(3/4) Round

1,850(1/4) wrinkled
Let: R = Round trait
w = wrinkled trait

First cross:

P0 (parental generation): Rxw

F1 (1st filial (progeny) generation): 253 Round

Cross the F1s:

Are these all the same?
F1 x F1 RxR

F2 (2nd filial generation): 5,474(3/4) Round

1,850(1/4) wrinkled
All round peas are not equal!
The test cross

Test the round pea by crossing to a wrinkled pea and

looking at the progeny produced. Two possible
outcomes: all round or ½ round ½ wrinkled.
 All round peas are not equal!

• The round peas in the F1 generation

produced some wrinkled progeny when
crossed to wrinkled.

• Of the round peas in the F2 generation, 2/3

gave some wrinkled progeny when crossed
to wrinkled and 1/3 only gave all round.
Hereditary Units:
Mendel proposed that
heredity comes in
discrete units: two per
organism per character.
The units come in two
flavors: dominant S and
recessive s. Gametes
(eggs and sperm) only
get one of these at
random from their
parent.
Heredity exists in discrete units
that travel through space and
time!
Genetic Terms:

Unit of Heredity: gene ~character

Different flavors: allele ~trait; S or s

Having two of
the same allele: homozygous e.g. SS, ss

Having two of
different alleles: heterozygous e.g. Ss
 Inbreeding makes
Let: S = Round allele (dominant) parents homozygous
which results in true-
s = wrinkled allele (recessive) breeding

First cross:

P0 (parental generation): SS (Round) x ss (wrinkled)

F1 (1st filial (progeny) generation): 253 Ss (Round)

Cross the F1s:

¼ SS, ½ Ss
Or, of the round peas:
F1 x F1 Ss x Ss 1/3 SS 2/3 Ss

F2 (2nd filial generation): 5,474(3/4) Ss, SS

1,850(1/4) ss
 The Punnett square is a
convenient tool for estimating
the expected fraction of
progeny with each phenotype.

253

But it doesn’t predict the

precise outcome!

5,474 round The reason is that the Punnett

1,850 wrinkled
square is really calculating…
combinatorics and probability!
Probability Theory Crash Course

First rule of probability: The probability of two independent

events both occurring is the product of the probability of
each event occurring.

Probability of getting heads when you flip a coin:

Coin #1 = ½ or 50:50

Coin #2 = ½ or 50:50

Probability of coin#1 and coint#2 heads:

½x½=¼
 Second rule of probability:
• The probabilities of mutually exclusive
events sum.
– probability homozygous round: ¼
– probability heterozygous round: ½
– probability homozygous wrinkled: ¼
– probability round: ¼ + ½ = 3/4
 Rr Rr

1/2 r R 1/2 1/2 r R 1/2

r r
R R R R
r R
R fertilization R r
R
R r
r r
r RR
R R r
r R

All gametes from one female All gametes from one male
 The Number of Heads Expected
When Flipping 4 Coins

1/16 1/4 3/8 1/4 1/16

0 1 2 3 4
heads heads heads heads heads
Genotype: the set of alleles an
organism has

Phenotype: the set of traits an

organism displays
Genotype determines phenotype,
but because of dominance,
phenotype may not uniquely
determine genotype.
Self-pollination test cross
Self-pollination Mendel’s test
test cross cross (to
homozygous
recessive
 Alleles of the same gene
segregate independently, but
what about alleles of different
genes?

The law of independent assortment.

 Are the alleles for different
phenotypes independent or are they
influencing each other?

S-Y s-y S S y y
s-y Y s s
S-Y Y

S-Y, s-y Ss, Yy

 Hypothesis I: alleles of
different genes stick together.
Hypothesis II: alleles of
different genes assort
independently.
9/16 Yellow Round
3/16 green Round
3/16 Yellow wrinkled
1/16 green wrinkled
In Mendel’s case, hypothesis
II was correct: alleles assort
independently
 Notes on Punnett squares and
gametes.
• To make the Punnett square work, you have to know what
gamete genotypes are possible and in what proportions.
• The number of gamete genotypes = 2n where n = the
number of different genes under consideration.
• Note: some of the gametes may have the same genotype.
They must still be included or else the proportions come
out wrong.
• If you are considering more than 3 genes, you probably
don’t want to use the Punnett square.
 Mendel’s Accomplishment

• Heredity exists as discrete units (alleles of genes).

• The units do not ‘blend’ in the heterozygote.
• The segregation of the alleles into the gametes
and re-association in the progeny explains the
ratios of the phenotypes.
• Alleles of different genes also segregate (assort).
Mendel was ignored for 34 years
But can you see the different
alleles?
No, except….