Unit 3 Inheritance - I

Mendel and the Gene Idea –

The Patterns of Inheritance
Hypotheses of Inheritance
1. One possible explanation of heredity is a “blending”
hypothesis –
 The idea that genetic material contributed by two
parents mixes in a manner analogous to the way blue
and yellow paints blend to make green.

2. An alternative to the blending model is the “particulate”

hypothesis of inheritance.
 The gene idea - Parents pass on discrete heritable
units, genes, to their offspring through the gametes
cells during fertilization.
Gregor Mendel
 Was the first to analyze the patterns of inheritance in a
systematic scientific way.
 Documented a particulate mechanism of inheritance through
his experiments with garden peas
 Mendel’s Experimental,
Quantitative Approach
 Mendel used the scientific approach to identify two laws of inheritance
 Mendel discovered the basic principles of heredity
 By breeding garden peas in carefully planned experiments
 He bred plants that differed in one or more inherited
characteristics, such as flower colour or seed shape.
 He also argued that parents pass on to their offspring discrete
‘heritable factors’ that are responsible for inherited traits such as
purple flowers or round seed in the pea plants. We now know
those heritable factors as genes.
 Mendel chose to work with peas
 Because they are available in many varieties with
distinguishable differences in 7 characteristics
 Because he could strictly control which plants
mated with which
 Because they were easy to grow
 The petals of the pea flower almost completely enclose
the carpel and the stamens and as such, in nature, the
pea plants usually self-fertilize as the pollen grains from
the stamens land on the tip of the stigma of the carpel.
 Mendel could ensure the plants self-fertilize by covering
a flower with a small bag so that no pollen from another
plant could reach the carpel.
 When he wanted cross-fertilization (fertilization of one
plant by pollen from a different plant), he pollinated the
plants by hand with the use of a brush.
 In this way, he could always be sure of the parentage of
his new plants.
 Crossing pea plants
1 Removed stamens
from purple flower
APPLICATION By crossing (mating) two true-breeding
varieties of an organism, scientists can study patterns of 2
Transferred pollen from
inheritance. In this example, Mendel crossed pea plants
stamens of white
that varied in flower color.
flower to egg-
bearing carpel of
purple flower

TECHNIQUE Parental
generation
(P)
Stamens
Carpel (male)
3 Pollinated carpel (female)
matured into pod

4 Planted seeds
from pod

TECHNIQUE
RESULTS When pollen from a white flower fertilizes 5 Examined
eggs of a purple flower, the first-generation hybrids all have purple offspring:
flowers. The result is the same for the reciprocal cross, the transfer First
all purple
of pollen from purple flowers to white flowers. generation
flowers
offspring
(F1)
 Some genetic vocabulary
 Character: a heritable feature, such as flower
color
 Trait: a variant of a character, such as purple
or white flowers
 Mendel chose to track
 Only those characters that varied in an “either-or” manner
 Mendel also made sure that
 He started his experiments with varieties that were “true-
breeding”/”pure-breeding”
 Eg. He identified a purple-flowered variety that, when
self-fertilized, always produced offspring plants that all
had purple flower thus confirming that it is a true-breed
for flower color.
Cross-breeding
 Mendel asked himself – ‘What would happen if I crossed
different true-breeding varieties with each other?’
 In a typical breeding experiment
 Mendel mated two contrasting, true-breeding
varieties, a process called hybridization producing
offspring which are called hybrids
 The true-breeding parents
 Are called the P generation
 While the offspring are called the F1 generation (first
filial generation).
 When the F1 plants self-fertilize, their offspring are the
F2 generation.
Mendel’s Law of Segregation
 Was established using monohybrid crosses
 When Mendel crossed contrasting, pure-
breeding white and purple flowered pea
plants
 All of the offspring were purple
 When Mendel crossed the F1 plants
 Many of the plants had purple flowers, but some
had white flowers
 Mendel discovered
A ratio of about three to one, purple to white
flowers, in the F2 generation
P Generation

(true-breeding
EXPERIMENT True-breeding purple-flowered pea plants and parents) Purple White
white-flowered pea plants were crossed (symbolized by ). The flowers flowers
resulting F1 hybrids were allowed to self-pollinate or were cross-
pollinated with other F1 hybrids. Flower color was then observed
in the F2 generation.
F1 Generation
(hybrids)

All plants had

purple flowers

F2 Generation

RESULTS Both purple-flowered plants and white-

flowered plants appeared in the F2 generation. In Mendel’s
experiment, 705 plants had purple flowers, and 224 had white
flowers, a ratio of about 3 purple : 1 white.
 Mendel reasoned that
 In the F1 plants, only the purple flower factor
was affecting flower color in these hybrids
 Purple flower color was dominant, and white
flower color was recessive.
 Mendel observed the same pattern
 In many other pea plant characters
Mendel’s 4 Hypotheses

 Mendel developed 4 hypotheses

 Toexplain the 3:1 inheritance pattern that he
observed among the F2 offspring
 First, there are alternative versions of
genes that
 Account for variations in inherited characters,
which are now called alleles
Allele for purple flowers

Homologous
Locus for flower-color gene pair of
chromosomes

Allele for white flowers

 Second, for each character
 An organism inherits two alleles, one from
each parent
 A genetic locus is actually represented twice
because chromosomes occur as pairs
(homologous pairs)
 Third, if the two alleles at a locus differ
 Then one, the dominant allele, determines the
organism’s appearance
 The other allele, the recessive allele, has no
noticeable effect on the organism’s appearance
 We use uppercase letters to represent dominant
alleles (P – purple flower allele) and lowercase letters
to represent recessive alleles (p – white flower allele)
 Fourth, the law of segregation
 The two alleles for a heritable character separate
(segregate) during gamete formation and end up
in different gametes. This means a gamete will
have only one allele of the gene.
 Does Mendel’s segregation model account
for the 3:1 ratio he observed in the F2
generation of his numerous crosses?
 We can answer this question using a Punnett
square
 Mendel’s Law of Segregation, probability
and the Punnett square
Each true-breeding plant of the
P Generation
parental generation has identical
alleles, PP or pp.

Appearance: Purple flowers White flowers
Gametes (circles) each contain only
Genetic makeup: PP pp
one allele for the flower-color gene.
In this case, every gamete produced
by one parent has the same allele. Gametes: P p

Union of the parental gametes

produces F1 hybrids having a Pp
combination. Because the purple-
F1 Generation
flower allele is dominant, all
these hybrids have purple flowers. Appearance:
Genetic makeup: Purple flowers
When the hybrid plants produce Pp
gametes, the two alleles segregate,
half the gametes receiving the P
Gametes: /2
1
P /2
1
p
allele and the other half the p allele.

F1 sperm
This box, a Punnett square, shows
all possible combinations of alleles P p
in offspring that result from an
F1  F1 (Pp  Pp) cross. Each square F2 Generation
represents an equally probable product P
of fertilization. For example, the bottom PP Pp
left box shows the genetic combination F1 eggs
resulting from a p egg fertilized by
a P sperm. p
Pp pp
Random combination of the gametes
results in the 3:1 ratio that Mendel
observed in the F2 generation. 3 :1
Useful Genetic Vocabulary
 An organism that is homozygous for a
particular gene
 Has a pair of identical alleles for that gene
 Exhibits true-breeding/pure-breeding for that
character
 An organism that is heterozygous for a
particular gene
 Has a pair of alleles that are different for that
gene
 An organism’s phenotype
 Is its physical appearance
 An organism’s genotype
 Is its genetic makeup/combination of alleles
 A wild-type trait is the trait found prevailing in
nature
 Phenotype versus genotype
Phenotype Genotype

Purple PP
1
(homozygous)

Pp
3 Purple (heterozygous)

2
Pp
(heterozygous)
Purple

pp
1 White 1
(homozygous)

Ratio 3:1 Ratio 1:2:1

The Testcross
 In pea plants with purple flowers
(dominant trait)
 The genotype is not immediately obvious
 A testcross
 Allows us to determine the genotype of an
organism with the dominant phenotype, but
unknown genotype
 Involves a cross between an individual with the
dominant phenotype but unknown genotype
with an individual that is homozygous recessive
for a trait
  The monohybrid testcross
APPLICATION An organism that exhibits a dominant trait,
such as purple flowers in pea plants, can be either homozygous for
the dominant allele or heterozygous. To determine the organism’s
genotype, geneticists can perform a testcross. 

Dominant phenotype, Recessive phenotype,

unknown genotype: known genotype:
TECHNIQUE In a testcross, the individual with the PP or Pp? pp
unknown genotype is crossed with a homozygous individual
expressing the recessive trait (white flowers in this example).
By observing the phenotypes of the offspring resulting from this
cross, we can deduce the genotype of the purple-flowered
parent. If Pp,
If PP,
then all offspring then 1⁄2 offspring purple
purple: and 1⁄2 offspring white:

p p p p
RESULTS
P P
Pp Pp Pp Pp

P p
Pp Pp pp pp

All purple
1:1; purple:
white
Monohybrid Inheritance in humans

 Many human traits follow Mendelian patterns of

inheritance
 Humans are not convenient subjects for genetic
research and thus to track genetic traits in
humans we can refer to a pedigree chart.
Pedigree Analysis
 A pedigree
 Is a family tree that describes the interrelationships
of parents and children across generations
 Inheritance patterns of particular traits
 Can be traced and described using pedigrees
 Pedigrees
 Can also be used to make predictions about future
offspring
 First generation
Ww ww ww Ww (grandparents) Ff Ff ff Ff

Second generation
(parents plus aunts
Ww ww ww Ww Ww ww FF or Ff Ff ff Ff Ff ff
and uncles)

Third
WW ww generation ff FF
or (two sisters) or
Ww Ff

Widow’s peak No Widow’s peak Attached earlobe Free earlobe

(a) Dominant trait (widow’s peak) (b) Recessive trait (attached earlobe)
Recessively Inherited Disorders
 Many genetic disorders
 Are inherited in a recessive manner
 Recessively inherited disorders
 Show up only in individuals homozygous for the
allele
 Carriers
 Are heterozygous individuals who carry the
recessive allele but are phenotypically normal
Recessively Inherited Disorders
 Cystic fibrosis
 Thalassaemia
 Sickle cell anaemia
 Albinism
 These diseases occur in individuals that
are homozygous recessive for that
particular trait
Cystic Fibrosis
 Symptoms of cystic fibrosis include
 Mucus buildup in the some internal organs
 Abnormal absorption of nutrients in the small
intestine
Sickle-Cell Anaemia
 Sickle-cell anaemia
 Affects one out of 400 African-Americans
 Is caused by the substitution of a single amino
acid in the hemoglobin protein in red blood cells
 Symptoms include
 Physicalweakness, pain, organ damage, and
even paralysis
Dominantly Inherited Disorders
 Some human disorders
 Are due to dominant alleles
 Huntington’s disease
 Is a degenerative disease of the nervous system
 Has no obvious phenotypic effects until about 35
to 40 years of age
 One example is achondroplasia
A form of dwarfism that is lethal when
homozygous for the dominant allele
 Mendel’s Law of Independent
Assortment
 Was established through study of dihybrid crosses
 Mendel derived the law of segregation
 By following a single trait
 The F1 offspring produced in this cross
 Were monohybrids, heterozygous for one character
 Mendel identified his second law of inheritance
 By following two characters at the same time
 Crossing two, true-breeding parents differing in two characters
 Produces dihybrids in the F1 generation, heterozygous for
both characters
 How are two characters transmitted from
parents to offspring?
 As a package?
 Independently?
  A dihybrid cross
 Illustrates the inheritance of two characters
 Produces four phenotypes in the F2 generation

EXPERIMENT Two true-breeding pea plants— P Generation YYRR yyrr

one with yellow-round seeds and the other with
green-wrinkled seeds—were crossed, producing Gametes YR  yr
dihybrid F1 plants. Self-pollination of the F1 dihybrids,
which are heterozygous for both characters,
produced the F2 generation. The two hypotheses F1 Generation YyRr
Hypothesis of Hypothesis of
predict different phenotypic ratios. Note that yellow dependent independent
color (Y) and round shape (R) are dominant. assortment assortment
Sperm
1
⁄4 YR 1
⁄4 Yr 1
⁄4 yR 1
⁄4 yr
Sperm
Eggs
RESULTS 1
⁄2 YR 1
⁄2 yr
1
⁄4 YR
Eggs YYRR YYRr YyRR YyRr
F2 Generation ⁄2 YR
1

YYRR YyRr 1
⁄4 Yr
(predicted YYrr YYrr YyRr Yyrr
offspring) 1
⁄2 yr
CONCLUSION The results support the hypothesis of YyRr yyrr 1
⁄4 yR
independent assortment. The alleles for seed color and seed YyRR YyRr yyRR yyRr
3
⁄4 1
⁄4
shape sort into gametes independently of each other. 1
⁄4 yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9
⁄16 3
⁄16 3
⁄16 1
⁄16

Phenotypic ratio 9:3:3:1

315 108 101 32 Phenotypic ratio approximately 9:3:3:1

 Using the information from a dihybrid
cross, Mendel developed the law of
independent assortment
 Each pair of alleles of a gene segregates
independently from the alleles of another
gene into the gamete cells during meiosis
 The laws of probability govern Mendelian
inheritance
 Mendel’s laws of segregation and
independent assortment
 Reflect the rules of probability
 A dihybrid or other multicharacter cross
 Is
equivalent to two or more independent
monohybrid crosses occurring simultaneously
 In calculating the chances for various
genotypes from such crosses
 Each character, first is considered separately
and then the individual probabilities are
multiplied together. When the expected ratios
of 3:1 in the F2 generation of two monohybrid
crosses are taken together, the result as seen
in the dihybrid cross is the 9:3:3:1 in the F2
generation.
The Dihybrid Testcross
 Just as in monohybrid crosses, genotypes of organisms
that show the dominant phenotypes can be confirmed
using a dihybrid testcross.
 If an unknown with dominant phenotypes is
homozygous dominant for both traits, then a testcross
with a double homozygous recessive would yield all
offspring which heterozygous and exhibit the dominant
phenotypes
 If an unknown with dominant phenotypes is
heterozygous for both traits, then a testcross with a
double homozygous recessive would yield offspring with
a phenotypic ratio of 1:1:1:1