How Genes Are Transmitted

from Generation to Generation

Chapter 3
 Lecture Objectives
To understand Mendelian Genetics:
• Single-gene traits (or diseases)
• Principle of Dominance
• Traits are inherited according to predictable rules

To understand the relationship of meiosis to Mendelian

Inheritance:
1. Segregation,
2. Independent assortment

To solve genetic problems

 Gene’s Definition
– A geneis a determinant, or a co-determinant, of
a character that is inherited in accordance with
Mendel’s rule (Today’s lecture)
Characteristics that run in families often have a genetic basis,
meaning that they depend on genetic information a person
inherits from his or her parents.
 Mendelian Genetics
Inheritance of single-gene traits

Gregor Mendel uncovered

the key principles of inheritance
Mendelian Genetics = Single-gene traits
• Some traits are controlled by a single gene.
• More than 9,000 human traits are determined
by a single gene.

Example:
- Huntington disease
- Cystic fibrosis
- Physical traits like cleft chin
 Father of genetics (1822-1884)
Mendelian Genetics
How Are Genes Transmitted?
• Specific patterns in the way traits
were passed from parent to offspring
 Mendel’s peas
• Mendel looked at seven traits or characteristics of pea
plants:
 Mendelian Genetics
Mendel called the visible
form the dominant trait
EXPERIMENT
and the hidden form the
recessive trait P Generation
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination

Dominant traits and Recessive traits

EXPERIMENT
Dominant traits and Recessive traits

P Generation
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination

F2 Generation
Some traits disappeared then
reappeared in 3:1 ratio
705 purple- 224 white
flowered flowered 3:1 ratio was a crucial clue that
plants plants let Mendel crack the puzzle of inheritance
Principle of Dominance:
One allele masked another, one allele was dominant
over the other in the F1 generation

A recessive allele’s effects may be masked by a dominant

allele
 Re-defining dominance/recessive

• Dominant trait: The trait

expressed in heterozygous
individuals.
• Recessive trait: The trait NOT
expressed in heterozygous
individuals.
Example:
– The phenotype of Pp
genotype is purple flower.
– Purple flower is a dominant
trait.
How inherited traits are passed between generations?

Mendel’s theory:
Traits are passed by “factors”

genes
 Traits Are Passed by Genes
• “Factors” or genes transmitted

• Each parent contributes only

one gene to each offspring

• Separation of pairs occurs during meiosis

Punnett Square
 Mendel’s Conclusions
• Genetic factors (now known as genes) can be present but not expressed
– The expressed trait is dominant
– The unexpressed trait is recessive
• Despite identical appearance, P1 and F1 plants must be genetically
different
• Although pea plants have two genes for each trait, they contribute only
one to their offspring
• Each plant carries two genetic factors for each trait, one from each
parent.
• Traits were not blended as they passed though parents
Genes
 Genetic Definitions
• Allele: Alternate copies of the Allele 1 Allele 2
same gene (variations of a gene)
• Locus (plural loci) location of a Allele A Allele A
particular gene on a chromosome
• Homozygous alleles = the same
version= same DNA sequence
(example allele A) 2 copies of the
• Heterozygous alleles = different SAME
chromosome
versions= slightly different DNA
sequences (example allele 1 and 2)
 Genotype
• Genotype is the genetic makeup of an organism. TT, Tt, and tt

• Dominant allele designated by upper case letter

– In the diagram below, the tall allele is P.

• Recessive allele designated by lower case letter

– In the diagram below, the dwarf allele is p.

• Since an individual carries two alleles, the genotype consists of two

letters.
PP Pp pp

Three possible combinations of alleles.

 Phenotype
• Expression of genotype. Actual characteristics. tall or short

These two genotypes result in

• Dominant gene is expressed if present identical phenotype.

PP Pp pp

Phenotype purple purple white

 Question
Which of the following statements is true concerning a
homozygote?
a. Both alleles for a trait are the same in this individual.
b. There is only one copy of a gene for a particular trait.
c. Males are more likely to be homozygous than females.
d. Two different alleles for a trait are present in a homozygote.
e. Homozygotes and heterozygotes will always show the same
phenotype.
 Mendelian Inheritance
Each person has 2 copies of every gene—one copy from mom and a second copy
from dad. These copies may come in different variations, known as alleles, that
express different traits

For example, 2 alleles in the gene for freckles

are inherited from mom and dad:
– allele from mom = has freckles (F)
– allele from dad = no freckles (f)
– child has the inherited gene pair of alleles,
Ff (F allele from mom and f allele from dad)
 Monohybrid cross for stem length:

P = parental TT  tt
true breeding, (tall) (dwarf)

homozygous plants:

Tt
F1 generation (all tall plants)
is heterozygous:

Monohybrid cross: a genetic cross involving a single pair

of genes (one trait); parents differ by a single trait
Using a Punnett Square
STEPS:
1. determine the genotypes of the parent organisms
2. write down your "cross" (mating)
3. draw a punnett square

Parent genotypes:
TT and t t

Cross
TT  tt
 Punnett square
4. "split" the letters of the genotype for each parent
& put them "outside" the punnett-square
5. determine the possible genotypes of the offspring by
filling in the punnett square
6. summarize results (genotypes & phenotypes of
offspring)
T T
TT  tt
t Genotypes:
Tt Tt
100% T t

Phenotypes:
t Tt Tt 100% Tall plants
 Secret of the Punnett Square

• Key to the Punnett Square:

• Determine the gametes of each parent…
• How? By “splitting” the genotypes of each
parent:
T T  t t
If this is your cross
The gametes are:
T T t t
 Once you have the gametes…
T T  t t

Because each square t t

represents an equally
likely event, we can
T Tt Tt
determine genotype
and phenotype ratios
by counting the squares T
Tt Tt
 Shortcut for Punnett Square…
• If both parents HOMOZYGOUS

T T  t t

t Genotypes:
100% T t
T
Tt
Phenotypes:
100% Tall plants
• You only need one box!
 Question
If two parents are homozygous for a genetically inherited
recessive trait, what is the probability that they will have a
child who does not have this trait in his or her phenotype?
a) 0%
b) 25%
c) 50%
d) 100%
Segregation of Alleles for Albinism
 P1 cross

Mendel’s Dihybrid Cross Smooth Yellow x wrinkled green

• Plants in the F2
generation showed four
phenotypic patterns
F1: All Smooth Yellow
– The two parental
phenotypes
– Two new phenotypes
– Phenotypes occurred in F1 x F1: x
Smooth Yellow Smooth Yellow
a 9:3:3:1 ratio

A dihybrid cross is an experimental cross F2: 9/16 Smooth Yellow 3/16 Smooth green
between two parent organisms that are
true-breeding for different forms of two traits 3/16 wrinkled Yellow 1/16 wrinkled green
 Independent Assortment in a Dihybrid
Cross
P1 cross P1 cross

SSYY ssyy ssYY SSyy

Smooth Yellow x wrinkled green wrinkled Yellow x Smooth green

Gamete formation Gamete formation

SY sy sY Sy
Fertilization Fertilization

SsYy
F1 = Smooth Yellow
F1 cross SsYy SsYy
 A Dihybrid Cross
F1: Smooth Yellow X Smooth Yellow

F2: Of all offspring Of all offspring Combined probabilities

if Smooth

( 3/4 )( 3/4 ) = 9/16 Smooth

3/4 are Yellow Yellow
3/4 are Smooth
1/4 are green ( 3/4 )( 1/4 ) = 3/16 Smooth
green

and if wrinkled

( 1/4 )( 3/4 ) = 3/16 wrinkled

3/4 are Yellow Yellow
1/4 are wrinkled
1/4 are green ( 1/4 )( 1/4 ) = 1/16 wrinkled
green
 F1 cross SsYy x SsYy

Independent Assortment
SY Sy sY sy
in a Dihybrid Cross
(cont’d.) SY SSYY Smooth SSYy SsYY Smooth SsYy
Yellow Smooth Yellow Smooth
Yellow Yellow F2

G
Sy SSYy Smooth SSyy Smooth SsYy Smooth Ssyy e
Yellow green Yellow Smooth n
green e
r
a
sY SsYY Smooth SsYy Smooth ssYY SsYy Smooth t
Yellow Yellow wrinkled Yellow
Yellow I
o
n
sy ssYy wrinkled Ssyy Smooth ssYy wrinkled ssyy
Yellow green Yellow wrinkled
green

F2 Genotypic ratios F2 Phenotypic ratios

1/16 SSYY
2/16 SSYy 9/16 Smooth Yellow
2/16 SsYY
4/16 SsYy
1/16 SSyy 3/16 Smooth green
2/16 Ssyy
1/16 ssYY 3/16 wrinkled Yellow
2/16 ssYy

1/16 ssyy 1/16 wrinkled green

Phenotypic and Genotypic Ratios in a
Dihybrid Cross: Branched-line analysis
Two-trait crosses

A dihybrid cross is a mating of individuals heterozygous for two traits, each governed by a
gene on a different chromosome. Analyzed on a Punnett square, this cross illustrates the law
of independent assortment—that is, each allele pair is inherited independently of others
found on different chromosomes. The phenotypes of the offspring of a dihybrid cross would be
expected to occur in