Mendel’s

 
Breakthrough
Chapter  2.
Mendel’s  Principles  of  Heredity

2
 Teaching  points
At  the  end  of  this  lesson  you  should  
be  able  to
• Apply Mendel’s two laws
• Perform a Punnett square and use it to
interpret genetic data
• Understand the difference between
dominant and recessive alleles
• Apply the rules of probability (product
and sum rules)
• Interpret pedigrees
• Describe the genetics of two human
diseases
 The  historical  puzzle  of  inheritance
circa  19th  Century
• Ar#ficial  selec#on  has  been  an  important  prac#ce  
since  before  recorded  history.
–Domes#ca#on  of  animals  
–Selec#ve  breeding  of  animals  and  plants
• domes&cated  animals,  food  crops
–Breeding  was  the  applica#on  of  gene#cs  without  
understanding  the  underlying  rules!!
• Breeders  could  not  explain  why  traits  would  
some#mes  disappear  and  then  reappear  in  
subsequent  genera#ons.
2-6
.....
 Gregor  Mendel  (1822-­‐1884)
Mendel  was  the  first  to  apply  data  collec#on,  
analysis,  and  theory  to  the  ques#on  of  the  rules  of  
inheritance.

2-4
Fig. 2.2
It was Gregor Mendel in 1865 who first introduced the concept of the gene. However, he did not use the word
gene. Mendel was an Austrian Monk and he worked in Brno (Brunn) Czechoslovakia. Mendel's interest in
botany began early because his family's chief occupation was the farming and the development of new apple
varieties. At school, he was formally educated in mathematics, physics, botany and zoology.

In Czechoslovakia, Mendel studied the genetics of the pea, Pisum sativum. At the time his approach was unique.
He first documented a number of simple traits and then established plant strains that bred true for these traits.
That is, for a given trait (such as pea color or texture) all of the children were identical to the parents.

Mendel took these pure strains and crossed them to one another, collected large data sets that represented all of
the progeny and searched for mathematical equations and relationships that described the results. Mendel
would propose specific hypotheses and then experimentally test them. This alone set him apart from other
geneticists of the time. This approach led him to propose his particulate theory of inheritance. This theory says
that each characteristic is determined by discrete units inherited that are passed intact down through the
generations. Mendel's particles of heredity are equivalent to the genetic units that we call the gene. Modern
work indicates that the details of Mendel's Laws and concepts are not completely correct. But his overall
concepts were sound.

Mendel was ignored

Mendel's work was published in 1865 but it was essentially ignored until 1900. Why was his work so
unappreciated? It resulted from the lack of any known physical basis for the postulated genetic factors (genes).

Why was Mendel's work finally appreciated?

A general understanding of Mendel's work had to wait until chromosomes were discovered. These structures
provided a physical basis that could account for the behavior of the particles of inheritance.

In 1903 Sutton published a paper describing how chromosomes behaved during meiosis. Basically, they behaved
in the same manner as Mendel's particular units. Make sure that you understand this and see how it relates to
the segregation of Mendel's particle units of inheritance.
 State  of  geneCcs  in  early  1800’s
• One  parent  contributes  
most  features  (e.g.,  
homunculus,  N.  Hartsoiker,  
1694).

• Blending  inheritance  –  
parental  traits  become  
mixed  and  forever  changed  
in  offspring
2-7
Fig.2.6
The  ques#ons  originally  posed  by  
Abbot  Napp,  and  addressed  by  
Mendel.
What  is  inherited?

How  is  it  inherited?

What  is  the  role  of  chance  in  

heredity?
2-7
Mendel’s  workplace
 Mendel  developed  the  first  model  
system
• What  is  a  model  system?
 Keys  to  Mendel’s  experiments
• The  garden  pea  (Pisum  sa(vum)  an  ideal  organism    for  his  
experiments.
– Vigorous  growth
– Self  fer&liza&on  <-­‐-­‐  Fantas&cally  important  !!!!!
– You  can  control  which  plants  mate  -­‐  self-­‐  and  cross-­‐fer&lize.
– Produced  large  number  of  offspring  each  genera&on
• Mendel  used  only  “either/or”  traits
–called  discrete  traits,  the  opposite  is  con#nffuous
• Mendel  established  pure  breeding  lines  to  conduct  his  
experiments.
• Performed  controlled  ma#ngs
• Worked  with  large  numbers  of  crosses
• Quan#fied  all  results 2-10
 Green Yellow Green

Seed color (interior) Pod shape (ripe)

X
Yellow Green Yellow
Round Pinched Round

Seed shape
Stem length
X

Round Wrinkled Round

X

Flower color
Long Short Long

Flower position
X

Purple White Purple Along stem At tip of stem Along stem

Pod color (unripe)

Green Yellow Green

Pod shape (ripe)

 Genotypes  and  Phenotypes
• Phenotype  –  observable  characteris#c  of  an  
organism
• Genotype  –  pair  of  alleles  present  in  an  
individual
• Homozygous  –  the  two  alleles  for  a  trait  are  the  
same  (YY  or  yy)
• Heterozygous  –  the  two  alleles  for  a  trait  are  
different  (Yy)

2-19
 Mendel’s  2  laws
• The  Law  of  Segrega(on  states  that  during  the  
produc#on  of  gametes,  the  copies  of  a  gene  
separate,  so  that  each  gamete  receives  only  one  
copy.
• The  Law  of  Independent  Assortment  states  that  
alleles  of  different  genes  assort  independently  of  
one  another  during  gamete  forma#on.  
Monohybrid
cross
 Monohybrid  crosses  reveal  units  of  
inheritance  and  Law  of  Segrega(on.
YY yy

Yy

YY
Yy
yY
yy

Fig.2.9
 Monohybrid  crosses  reveal  units  of  
inheritance  and  Law  of  Segrega(on.
YY yy

Yy

YY
Yy
yY
yy

Fig.2.9 SHOWS THAT BLENDING INHERITANCE HAD NOT OCCURRED.

Mendel’s Postulates
Mendel’s Postulates
Unit factors in pairs
Mendel’s Postulates
Unit factors in pairs

Segregation of
factors during
gamete formation
Mendel’s Postulates
Unit factors in pairs

Segregation of
factors during
gamete formation

One factor is
dominant to the
other, and decides
phenotype
Mendel’s Postulates
Unit factors in pairs

Segregation of
factors during
gamete formation

One factor is
dominant to the
other, and decides
phenotype

Proposed that for each trait, there are two equal copies of a unit of
inheritance (particle of inheritance).
MONOHYBRID CROSS
 Segregation of
alleles during
gamete formation

Segregation of
alleles during Punnett Square
gamete formation
Mendel performed mono-
hybrid crosses for 7
distinct traits, all of which
gave him the same 3:1
ratio of dominant:
recessive phenotypes in
the F2 generation.
 The  Punne_  Square

2-15
Fig. 2.11
 Traits  have  dominant  and  recessive  forms.
• Disappearance  of  traits  in  F1  genera#on  and  
reappearance  in  the  F2  genera#on  disproves  the  
hypothesis  that  traits  blend.
• Trait  has  two  forms  each  of  which  can  breed  true.
• The  monohybrid  cross  indicates  that  one  form  must  
be  hidden  aaer  plants  with  each  trait  are  interbred.
• Trait  that  appears  in  F1  is  dominant.
• Trait  that  is  hidden  in  F1  is  recessive.
2-12
 AlternaCve  forms  of  traits  are  alleles
• Each  trait  arises  from  two  copies  of  a  unit  of  
inheritance,  one  inherited  from  the  mother  and  
the  other  from  the  father.
• Alterna#ve  forms  of  traits  are  called  alleles.

2-13
 Law  of  Segrega(on
• Two  alleles  for  a  
Y trait  separate  
Yy (segregate)  during  
y gamete  forma#on,  
and  then  unite  at  
random,  one  from  
Y each  parent,  at  
Yy fer#liza#on.
y

Fig. 2.10
 Mendel  formed  hypotheses,  made  predicCons  and  
tested  the  predicCons  by  performing  crosses.  His  results  
matched  predicted  raCos  and  confirmed  his  hypothesis.

2-18
Fig. 2.12
 Test  cross  reveals  unknown  genotpye

2-21
Fig. 2.14
 Dihybrid  crosses  reveal  the
law  of  independent  assortment.
• A  dihybrid  is  an  individual  that  is  heterozygous  at  
two  genes.
• Mendel  designed  experiments  to  determine  if  
two  genes  segregate  independently  of  one  
another  in  dihybrids.
• First  constructed  true  breeding  lines  for  both  
traits,  crossed  them  to  produce  dihybrid  
offspring,  and  examined  the  F2  for  parental  or  
recombinant  types  (new  combina#ons  not  
present  in  the  parents) 2-22
Dihybrid  cross  shows  parental  and  
recombinant  types.

Fig. 2.15
 Dihybrid  cross  shows  parental  and  
recombinant  types.

parental type These are both parental types because they look
like the individuals in the parental generation (P).
parental type

These are both recombinant types becasue they look like a

recombinant type
mixture of the two parental types - round is found with
yellow, and green is found with wrinkled. The traits seen in
recombinant type the parental generation have be recombined.
Fig. 2.15
 Dihybrid Cross
Mate pure-breeding lines that
differ at two different genetic
loci:
• Y locus controls seed color.
• R locus controls seed shape.

The yellow and round phenotypes

are dominant.
 Dihybrid Cross
Mate pure-breeding lines that
differ at two different genetic
loci:
• Y locus controls seed color.
• R locus controls seed shape.

RATIO

1
3
3
 Dihybrid  cross  produces  a  predictable  
raCo  of  phenotypes.

2-25
Fig. 2.15
 Dihybrid  cross  produces  a  predictable  
raCo  of  phenotypes.

Both traits are behaving

exactly the same way as in
a monohybrid cross.

Their segregation is
INDEPENDENT of each
other.

This is shown in the ratio

of Yellow to green and in
the ratio of Wrinkled to
smooth.

2-25
Fig. 2.15
 The  law  of  independent  assortment
• During  gamete  forma#on  different  pairs  of  alleles  
segregate  independently  of  each  other.

Fig. 2.16 2-26

 Summary  of  Mendel's  work
• Inheritance  is  par#culate  -­‐  not  blending.
• There  are  two  copies  of  each  trait  in  a  germ  cell.
• Gametes  contain  one  copy  of  the  trait.
• Alleles  (different  forms  of  the  trait)  segregate  
away  from  one  another.
• Alleles  can  be  dominant  or  recessive  -­‐  thus  the  
difference  between  genotype  and  phenotype.
• Different  traits  assort  independently.
2-27
 Mendel’s  2  laws
• The  Law  of  Segrega(on  states  that  during  the  
produc#on  of  gametes,  the  copies  of  a  gene  
separate,  so  that  each  gamete  receives  only  one  
copy.
• The  Law  of  Independent  Assortment  states  that  
alleles  of  different  genes  assort  independently  of  
one  another  during  gamete  forma#on.  
 Rediscovery  of  Mendel
• Mendel’s  work  was  unappreciated  and  remained  
dormant  for  34  years.
• Even  Darwin’s  theories  were  viewed  with  
skep#cism  in  the  late  1800’s  because  he  could  
not  explain  the  mode  of  inheritance  of  varia#on.
• In  1900,  16  years  aaer  Mendel  died,  four  
scien#sts  rediscovered  and  acknowledged  
Mendel’s  work,  giving  birth  to  the  science  of  
gene#cs.

2-32
 1900  -­‐  Carl  Correns,  Hugo  deVries,  and  
Erich  von  Tschermak  rediscover  and  
confirm  Mendel’s  laws.
Stop 8/3/13

2-33
Fig. 2.19
Probabili#es
 Rules  of  Probability
The Product rule - probability of two independent events occurring
together

What is the probability that both A and B will occur?

Solution = determine probability of each and multiply
them together.

The Sum rule - probability of an event that can occur in two or more
independent ways is the sum of the individual probabilities for each
of the ways.

Solution = determine the probability of each and add

them together.
2-16
 Mendel’s  2  laws
• The  Law  of  Segrega(on  states  that  during  the  
produc#on  of  gametes,  the  copies  of  a  gene  
separate,  so  that  each  gamete  receives  only  one  
copy.
• The  Law  of  Independent  Assortment  states  that  
alleles  of  different  genes  assort  independently  of  
one  another  during  gamete  forma#on.  
 PRODUCT
RULE

Gametes have a 1/2

chance of carrying
either allele ...
Gametes have a 1/2
chance of carrying
either allele ...

... each box of Punnett Square has a

probability of 1/2 X 1/2 = 1/4
 SUM
RULE

Offspring can receive

the Y allele from
mother only (1/4),
father only (1/4), or
both (1/4).
Example.
The probability of
Probability of yellow the dominant
phenotype. phenotype (Y-) is
therefore:
1/4+1/4+1/4 = 3/4
 Probability  and  Mendel’s  Results
• Cross  Yy  x  Yy  pea  plants.    
–Chance  of  Y  sperm  uni#ng  with  a  Y  egg
• ½  chance  of  sperm  with  Y  allele
• ½  chance  of  egg  with  Y  allele
• Chance  of  Y  and  Y  uni&ng  =  ½  x  ½  =  ¼
–Chance  of  Yy  offspring
• ½  chance  of  sperm  with  y  allele  and  egg  with  Y  allele
• ½  chance  of  sperm  with  Y  allele  and  egg  with  y  allele
• Chance  of  Yy  –    (½  x  ½)  +  (½  x  ½)  =  2/4,  or  1/2

2-17
 Product rule:
odds of Y from
father and y from
mother =
1/2*1/2
 Product rule:
odds of Y from
father and y from
mother =
1/2*1/2

sum rule:
odds of occurance
of Yy is 1/4+1/4
What fraction of the F2 generation
are both yellow and wrinkled
(= Y_ rr)?
Product Rule:
probability of rr = 1/2 X 1/2 = 1/4
Sum Rule:
Yy = 1/2*1/2 = 1/4
yY = 1/2*1/2 = 1/4
YY = 1/2*1/2 = 1/4
probability of Y_ = 1/4 +1/4 + 1/4 = 3/4

RATIO

1
3
3
What fraction of the F2 generation
are both yellow and wrinkled
(= Y_ rr)?
Product Rule:
probability of rr = 1/2 X 1/2 = 1/4
Sum Rule:
Yy = 1/2*1/2 = 1/4
yY = 1/2*1/2 = 1/4
YY = 1/2*1/2 = 1/4
probability of Y_ = 1/4 +1/4 + 1/4 = 3/4
Product Rule:
ANSWER: 1/4 X 3/4 = 3/16
RATIO

1
3
3
 Laws  of  probability  for  mulCple  
genes
P RRYYTTSS X rryyttss

gametes RYTS ryts

F1 RrYyTtSs X RrYyTtSs

RYTS RYTs RYtS RYts RYTS RYTs RYtS RYts

gametes
RyTS RyTs RytS Ryts RyTS RyTs RytS Ryts

rYTS rYTs rYts rYTS rYTS rYTs rYts rYTS

ryTs rYtS rYts ryts ryTs rYtS rYts ryts

F2 What is the ratio of different genotypes

and phenotypes?
2-28
Punnett Square method - 24 = 16 possible gamete
combinations for each parent

Thus, a 16 × 16 Punnett Square with 256 genotypes

That’s one big Punnett Square!

Loci Assort Independently - So we can look at each locus

independently to get the answer.

2-29
 P RRYYTTSS × rryyttss

F1 RrYyTtSs × RrYyTtSs

What is the probability of obtaining the genotype RrYyTtss in the

F2 generation?

Rr × Rr Yy × Yy Tt × Tt Ss × Ss

1RR:2Rr:1rr 1YY:2Yy:1yy 1TT:2Tt:1tt 1SS:2Ss:1ss

2/4 Rr 2/4 Yy 2/4 Tt 1/4 ss

Probability of obtaining individual with Rr and Yy and Tt and ss.

2/4 × 2/4 × 2/4 × 1/4 = 8/256 (or 1/32)

 P RRYYTTSS × rryyttss

F1 RrYyTtSs × RrYyTtSs
What is the probability of obtaining a completely homozygous
genotype in the F2 generation?
Genotype could be RRYYTTSS or rryyttss

Rr × Rr Yy × Yy Tt × Tt Ss × Ss

1RR:2Rr:1rr 1YY:2Yy:1yy 1TT:2Tt:1tt 1SS:2Ss:1ss

1/4 RR 1/4 YY 1/4 TT 1/4 SS

1/4 rr 1/4 yy 1/4 tt 1/4 ss

(1/4 × 1/4 × 1/4 × 1/4) + (1/4 × 1/4 × 1/4 × 1/4) = 2/256

2-31
Simple  Mendelian  inheritance  in  humans
• Human  examples  of  single  genes  traits.  

2-34
• Most  heritable  traits  are  due  to  the  interac#on  
of  mul#ple  genes  and  do  not  show  a  simple  
Mendelian  pa_ern  of  inheritance.
 In  humans  we  use  pedigrees  to  study  
inheritance.
• Pedigrees  are  an  orderly  diagram  of  a  families  
relevant  gene#c  features  extending  through  
mul#ple  genera#ons.

• Pedigrees  help  us  infer  if  a  trait  is  from  a  single  

gene  and  if  the  trait  is  dominant  or  recessive.

2-35
 Anatomy  of  a  pedigree

2-36
Fig. 2.20
 A  verCcal  paQern  of  inheritance  
indicates  a  dominant  trait.

Huntington’s disease: A rare dominant trait

Fig. 2.21
Huntington’s disease is a rare (1 in 15,000), fatal human
disorder caused by a dominant allele. The first
symptoms of the disease appear when the individual is
in their 40’s. Huntington’s disease is an incurable
neurodegenerative genetic disorder.
Cora is married, in her 20’s, and planning to have
children. But then she learns that her father has
Huntington’s disease.
• What is the probability that Cora herself carries the
disease-causing allele?
• If Cora has a child, what is the probability that her
child will inherit the disease-causing allele?
 mother father
The disease allele is rare, so we
hh Hh assume that individuals of unknown
ancestry don’t carry it, and that
affected individuals are
heterozygous.

GENOTYPE
50% h h Cora hh husband
50% H h
h = recessive
normal allele
? H = dominant
disease allele
50% chance of carrying H allele
X 50% chance of passing it along
25% chance of a child inheriting H allele
Cystic fibrosis (CF) is a rare (1 in 2,000-3,000 of
European descent) disease resulting from
homozygous recessive alleles at an autosomal
locus. The condition is apparent at birth, and generally
leads to death by age 20.
 A  horizontal  paQern  of  inheritance  

Cystic fibrosis: a recessive condition

Assign the genotypes for each pedigree
Figure 2.21
 A  horizontal  paQern  of  inheritance  

cc

cc C_

Cystic fibrosis: a recessive condition

Assign the genotypes for each pedigree
Fig.2.22
 A  horizontal  paQern  of  inheritance  

Cc Cc

Cc Cc C_ cc C_

cc C_

Cystic fibrosis: a recessive condition

Assign the genotypes for each pedigree
Fig.2.22
 A  horizontal  paQern  of  inheritance  

Cc Cc

Cc Cc

Cc Cc

Cc Cc

Cc Cc C_ cc C_

cc C_

Cystic fibrosis: a recessive condition

Assign the genotypes for each pedigree
Fig.2.22
Cystic fibrosis (CF) is a rare (1 in 2,000-3,000 of
European descent) disease resulting from
homozygous recessive alleles at an autosomal
locus. The condition is apparent at birth, and generally
leads to death by age 20.
____________________
Brett and Sapphire would like to have children, but
each of them had a sibling - now deceased - who was
afflicted with CF. None of their 4 parents had CF.
If Brett and Sapphire have a child, what is the
probability that the child will develop cystic fibrosis?
What is the probability that Brett and/or Sapphire are
heterozygous carriers?
What is the probability that Brett and/or Sapphire are
heterozygous carriers?
• CF is caused by a homozygous recessive allele. Since Brett and
Sapphire both have affected siblings, all 4 of their parents must be
heterozygous carriers.
What is the probability that Brett and/or Sapphire are
heterozygous carriers?
• CF is caused by a homozygous recessive allele. Since Brett and
Sapphire both have affected siblings, all 4 of their parents must be
heterozygous carriers.
• Two heterozygous parents will produce offspring with the
following probabilities:
-1/4 homozygous normal (unaffected)
-1/2 heterozygous (unaffected)
-1/4 homozygous recessive (affected)
What is the probability that Brett and/or Sapphire are
heterozygous carriers?
• CF is caused by a homozygous recessive allele. Since Brett and
Sapphire both have affected siblings, all 4 grandparents must be
heterozygous carriers.
• Two heterozygous parents will produce offspring with the
following probabilities:
-1/4 homozygous normal (unaffected)
-1/2 heterozygous (unaffected)
-1/4 homozygous recessive (affected)

Brett and Sapphire are themselves

unaffected, so we can rule out the
last possibility.
What is the probability that Brett and/or Sapphire are
heterozygous carriers?
• CF is caused by a homozygous recessive allele. Since Brett and
Sapphire both have affected siblings, all 4 grandparents must be
heterozygous carriers.
• Two heterozygous parents will produce offspring with the
following probabilities:
-1/4 homozygous normal (unaffected)
-1/2 heterozygous (unaffected)
-1/4 homozygous recessive (affected)
• For either Brett or Sapphire, the probability that he/she is
heterozygous for the CF allele is = 2/3.

What is the probability that their child will be affected?

What is the probability that Brett and/or Sapphire are
heterozygous carriers?
• CF is caused by a homozygous recessive allele. Since Brett and
Sapphire both have affected siblings, all 4 grandparents must be
heterozygous carriers.
• Two heterozygous parents will produce offspring with the
following probabilities:
-1/4 homozygous normal (unaffected)
-1/2 heterozygous (unaffected)
-1/4 homozygous recessive (affected)
• For either Brett or Sapphire, the probability that he/she is
heterozygous for the CF allele is 2/3.

What is the probability that their child will be affected?

• The probability that either Brett or Sapphire will pass the CF allele
along to a child is 2/3 X 1/2 = 1/3.
What is the probability that Brett and/or Sapphire are
heterozygous carriers?
• CF is caused by a homozygous recessive allele. Since Brett and
Sapphire both have affected siblings, all 4 grandparents must be
heterozygous carriers.
• Two heterozygous parents will produce offspring with the
following probabilities:
-1/4 homozygous normal (unaffected)
-1/2 heterozygous (unaffected)
-1/4 homozygous recessive (affected)
• For either Brett or Sapphire, the probability that he/she is
heterozygous for the CF allele is 2/3.

What is the probability that their child will be affected?

• The probability that either Brett or Sapphire will pass the CF allele
along to a child is 2/3 X 1/2 = 1/3.
• The probability that Brett and Sapphire’s child will be
homozygous for the CF allele is therefore:

(1/3) X (1/3) = 1/9

 A  horizontal  paQern  of  inheritance  

Cc Cc

Cc Cc

Cc Cc

Cc Cc

Cc Cc C_ cc C_

cc C_

Cystic fibrosis: a recessive condition

Assign the genotypes for each pedigree
Fig.2.22
End  Chapter  2  lecture