MOLECULAR AND CELL BIOLOGY II (MCBN

172)

Patterns of Inheritance (Chapter 12, Study unit 1)

Lecturer: Miss Sinenhlanhla Mthembu

40624560@mynwu.ac.za
https://www.linkedin.com/in/sinenhlanhla-x-h-mthembu/
What is expected of you?

• Read through the relevant text in your textbook (recommended by the lecturer)

• Work through the PowerPoint presentations to get a summary of the most important information
from each chapter

• Work through any additional resources that the lecturer might add in order to explain complex
concepts (Links to videos)

• Use eFundi messages for any problems

• Complete the tutorials and assignments as scheduled do not leave it for the last minute

• Complete the class tests as scheduled

• Attendance is a MUST all the time! (Check your timetable)

We wish you all the best and hope that you will enjoy the module!
Textbook Learning outcomes
McGraw-Hill Electronic textbook:

Describe explanations for inheritance prior to Mendel.

Explain the advantages of Mendel’s experimental system.

Evaluate the outcome of a monohybrid /dihybrid cross

Explain Mendel’s Principle of Segregation

Explain the rule of addition and the rule of multiplication.

Discuss a genetic explanation for continuous variation.

What is inheritance/Heredity?

- is the transmission of traits or information from one generation of individuals or cells to the next

The Mystery of Heredity

Before the 20th century, 2 concepts were the basis for ideas about

heredity

➢ Heredity occurs within species

➢ Traits are transmitted directly from parent to offspring

➢ Thought traits were borne through fluid and blended in offspring

Paradox: If blending occurs, why don’t all individuals look alike?

Earlier work

➢ Josef Kolreuter – 1760- crossed tobacco strains to produce hybrids that differed from
both parents:
-Additional variation observed in 2nd generation offspring contradicts direct transmission

➢ T. A. Knight – crossed 2 varieties of garden peas (Pisum Sativa):

-1st generation resembled only 1 parent strain

-2nd generation resembled both

Gregor Mendel- experimented on hybridization using garden peas

➢ Chose to study pea plants because:

a) Other research showed that pea hybrids could be produced

b) Many pea varieties were available
c) Peas are small plants and easy to grow
d) Peas can self-fertilize or be cross-fertilized

➢ Mendel’s experimental method some terminology:

• Cross-fertilize: male and female gametes from different flowers/plant used to make zygote (pea)
• Self-fertilize: male and female gametes from one flower/plant used to make zygote (pea)
• True-breeding: offspring produced by self fertilization remains uniform (purple flower plant make more purple
colored plants).
• Reciprocal cross: switching the order of plants that pollen is taken from to fertilize another plant
 ➢ Mendel’s experimental method

a) Produce true-breeding strains for each trait he was studying

b) Cross-fertilize true- breeding strains having alternate forms of a trait
-Also perform reciprocal crosses
a) Allow the hybrid offspring to self-fertilize for several generations and count
the number of offspring showing each form of the trait
Mendel’s experimental method

• Pollen taken from anther used to fertilize eggs in

female carpel.
• Zygote forms.
• True-breeding = peas produced will develop into
plants with purple flowers

True breeding plants: Allow plants to self-fertilize

8
 How did Mendel conduct his experiments?

The flowers used by Mendel during his studies were purple. He cut the anthers away to prevent them from being able to
pollinate. Pollen was obtained from the white flowers and transferred to the purple flower. All progeny of the cross resulted in
purple flowers.
What is a monohybrid cross?

Mono = one trait (ex: flower color)

Hybrid = 2 variations (ex: white or purple)

Monohybrid Cross: a cross that follows only two variations on a single trait
➢ Can lead to important conclusions about the nature of
inheritance
➢ Mendel produced true-breeding pea strains for 7 different traits

-Each trait had 2 variants

Mendel's 7 pea traits
F1 Generation

➢ First filial (F1) generation- Offspring produced by crossing 2 true-breeding strains (P generation)

➢ For every trait Mendel studied, all F1 plants resembled only 1 parent

• Referred to the trait shown in F1 as dominant

▪ Alternative trait was recessive (hidden)

▪ No intermediate colors observed (purple-ish white)

F2 Generation

▪ Offspring resulting from the self-fertilization of F1

plants

▪ The recessive trait had reappeared among some F2

individuals

▪ Counted proportions of traits

⮚ Always found about 3:1 ratio

▪ (3 dominant to 1 recessive)
3:1 ratio is actually 1:2:1
F2 plants
¾ plants with the dominant form
¼ plants with the recessive form
The dominant to recessive ratio was 3:1
Mendel discovered the ratio is actually:
1 true-breeding dominant plant
2 not-true-breeding dominant plants (hybrid)
1 true-breeding recessive plant
1:2:1
 True- True-
breeding breeding
Purple White

Parent Generation
Parent Parent
3:1 Phenotypic Ratio
• Phenotype: physical
appearance or observable
Cross-fertilize
characteristic of the alleles
Purple
Offspring
(gene versions)
F1 Generation

Self-cross

Purple Purple Purple White

1:2:1 Genotypic Ratio
Dominant Dominant Dominant Recessive
• Genotype: set of alleles
F2 Generation F2 generation
(3:1 phenotypic
3:1 Phenotypic Ratio • Each flower is diploid, so
ratio)

True- Non-true- Non-true- True-

has 2 copies of each gene (2
breeding breeding breeding breeding
alleles)
Self-cross Self-cross Self-cross Self-cross
• Some have 2 purple, some
have 2 white, some have one
F3 generation
(1:2:1 genotypic
1:2:1 Genotypic Ratio of each!
ratio)
Conclusions

• His plants did not show intermediate traits

➢ Each trait is intact, discrete

• For each pair, one trait was dominant, the other recessive

• Pairs of alternative traits (genes) examined were segregated among the progeny of a
particular cross

• Alternative traits (genes) were expressed in the F2 generation in the ratio of ¾ dominant to ¼
recessive
Mendel’s five-element model
1. Parents do not transmit physiological traits directly to their offspring

2. Each individual receives one copy of each gene from each parent

3. Not all copies of a gene are identical

-The alternative forms of a gene are called alleles

-When two haploid gametes containing the same allele fuse during fertilization, the
resulting offspring is said to be homozygous
-When the two haploid gametes contain different alleles, the resulting offspring is
said to be heterozygous
4. The two alleles remain discrete—they neither blend
with nor alter each other.

5. The presence of a particular allele does not ensure that the trait it encodes
will be expressed

-Geneticists now refer to the total set of alleles that an individual contains as
the individual’s genotype

-The physical appearance or other observable characteristics of that individual,

which result from an allele’s expression, is termed the individual’s
phenotype
 Principle of Segregation/ Mendel’s first law of heredity

States: the two alleles for a gene segregate during gamete formation and are rejoined at random, one from
each parent, during fertilization
The physical basis for allele segregation is the behavior of chromosomes during meiosis.
Mendel had no knowledge of chromosomes or meiosis – had not yet been described

Gene for Seed Texture has two varieties (alleles)

Allele for spherical seeds (S)

Locus for seed texture gene

Homologous pair of chromosomes

Allele for wrinkled seeds (s)

Heterozygous: two different alleles for seed texture: Ss

Gametes produced by this plant will either get the S or s, but not both (gametes are haploid)
Mendel’s first law : The law of segregation
The two copies of a gene separate when an individual makes
gametes.

Parent Flower: Diploid

Gametes: Haploid
The Punnett square allows symbolic analysis

-Cross purple-flowered plant with white-flowered plant

▪ P is dominant allele – purple flowers

▪ p is recessive allele – white flowers

✔ True-breeding white-flowered plant is pp

Homozygous recessive

✔ True-breeding purple-flowered plant is PP

Homozygous dominant

✔ Pp is heterozygote purple-flowered plant

 Human traits

• Some human traits are controlled by a single gene

• Some of these exhibit dominant and recessive inheritance

➢ Pedigree- A diagram that traces the inheritance of a particular trait through several
generations of the same famil

➢ Pedigree analysis: is used to track inheritance patterns in families

 Pedigrees
General Steps:
1) Determine mode of inheritance: autosomal
dominant, autosomal recessive, sex-linked, etc
2) Write out the genotypes of affected and unaffected
individuals
3) Start filling in the pedigree with the obvious
genotypes (ex: for a dominant trait, you know all
filled in shapes have one capital letter [dominant
allele])

Autosomal Dominant Inheritance Rules:

1. Every affected person has an affected parent
2. About half of the offspring of just one affected parent are also affected
3. The phenotype occurs equally in both sexes (so not on X or Y chromosome)
4. Affected individuals have at least one dominant allele
 Recessive Pedigree

One of these persons

Generation I is heterozygous
1 2
Heterozygous • Recessive pedigree – albinism
Generation II
1 2 3 4 5
➢ Condition in which the pigment melanin
is not produced
Generation III
1 2 3 4 5 6 7 ➢ Pedigree for form of albinism due
Generation IV Mating between
to a nonfunctional
first cousins allele of the enzyme tyrosinase
1 2 3
Homozygous recessive ➢ Males and females affected equally
unaffected male
Key
affected male male carrier
➢ Most affected individuals have
unaffected female affected female female carrier
unaffected parents

Autosomal Recessive Disease