Introduction and

Mendel’s first law

BIOL 261 - Molecular and general genetics
Instructor: Prof. Laurent Potvin-Trottier
Fall 2020

**Zoom lectures guidelines**

- Keep your microphone muted ( I will unmute
you if you have a question)
- Use the chat only to ask questions. I will
periodically stop lecturing to answer questions
ATTAAAGGTTTATACCTTCCCAGGTAACAAACCAACCAACTTTCGATCTCTTGTAGATCTGTTCTCTAAACGAACTTTAAAATCTGTGTGGCTGTCACTCGGCTGCATGCTTAGT
GCACTCACGCAGTATAATTAATAACTAATTACTGTCGTTGACAGGACACGAGTAACTCGTCTATCTTCTGCAGGCTGCTTACGGTTTCGTCCGTGTTGCAGCCGATCATCAGCA
CATCTAGGTTTCGTCCGGGTGTGACCGAAAGGTAAGATGGAGAGCCTTGTCCCTGGTTTCAACGAGAAAACACACGTCCAACTCAGTTTGCCTGTTTTACAGGTTCGCGACG
TGCTCGTACGTGGCTTTGGAGACTCCGTGGAGGAGGTCTTATCAGAGGCACGTCAACATCTTAAAGATGGCACTTGTGGCTTAGTAGAAGTTGAAAAAGGCGTTTTGCCTCA
ACTTGAACAGCCCTATGTGTTCATCAAACGTTCGGATGCTCGAACTGCACCTCATGGTCATGTTATGGTTGAGCTGGTAGCAGAACTCGAAGGCATTCAGTACGGTCGTAGTG
GTGAGACACTTGGTGTCCTTGTCCCTCATGTGGGCGAAATACCAGTGGCTTACCGCAAGGTTCTTCTTCGTAAGAACGGTAATAAAGGAGCTGGTGGCCATAGTTACGGCGC
CGATCTAAAGTCATTTGACTTAGGCGACGAGCTTGGCACTGATCCTTATGAAGATTTTCAAGAAAACTGGAACACTAAACATAGCAGTGGTGTTACCCGTGAACTCATGCGTG
AGCTTAACGGAGGGGCATACACTCGCTATGTCGATAACAACTTCTGTGGCCCTGATGGCTACCCTCTTGAGTGCATTAAAGACCTTCTAGCACGTGCTGGTAAAGCTTCATGC
ACTTTGTCCGAACAACTGGACTTTATTGACACTAAGAGGGGTGTATACTGCTGCCGTGAACATGAGCATGAAATTGCTTGGTACACGGAACGTTCTGAAAAGAGCTATGAATT
GCAGACACCTTTTGAAATTAAATTGGCAAAGAAATTTGACACCTTCAATGGGGAATGTCCAAATTTTGTATTTCCCTTAAATTCCATAATCAAGACTATTCAACCAAGGGTTGAA
AAGAAAAAGCTTGATGGCTTTATGGGTAGAATTCGATCTGTCTATCCAGTTGCGTCACCAAATGAATGCAACCAAATGTGCCTTTCAACTCTCATGAAGTGTGATCATTGTGGT
GAAACTTCATGGCAGACGGGCGATTTTGTTAAAGCCACTTGCGAATTTTGTGGCACTGAGAATTTGACTAAAGAAGGTGCCACTACTTGTGGTTACTTACCCCAAAATGCTGT
TGTTAAAATTTATTGTCCAGCATGTCACAATTCAGAAGTAGGACCTGAGCATAGTCTTGCCGAATACCATAATGAATCTGGCTTGAAAACCATTCTTCGTAAGGGTGGTCGCACT
ATTGCCTTTGGAGGCTGTGTGTTCTCTTATGTTGGTTGCCATAACAAGTGTGCCTATTGGGTTCCACGTGCTAGCGCTAACATAGGTTGTAACCATACAGGTGTTGTTGGAGAA
GGTTCCGAAGGTCTTAATGACAACCTTCTTGAAATACTCCAAAAAGAGAAAGTCAACATCAATATTGTTGGTGACTTTAAACTTAATGAAGAGATCGCCATTATTTTGGCATCTT
TTTCTGCTTCCACAAGTGCTTTTGTGGAAACTGTGAAAGGTTTGGATTATAAAGCATTCAAACAAATTGTTGAATCCTGTGGTAATTTTAAAGTTACAAAAGGAAAAGCTAAAAA
AGGTGCCTGGAATATTGGTGAACAGAAATCAATACTGAGTCCTCTTTATGCATTTGCATCAGAGGCTGCTCGTGTTGTACGATCAATTTTCTCCCGCACTCTTGAAACTGCTCA
AAATTCTGTGCGTGTTTTACAGAAGGCCGCTATAACAATACTAGATGGAATTTCACAGTATTCACTGAGACTCATTGATGCTATGATGTTCACATCTGATTTGGCTACTAACAATC
TAGTTGTAATGGCCTACATTACAGGTGGTGTTGTTCAGTTGACTTCGCAGTGGCTAACTAACATCTTTGGCACTGTTTATGAAAAACTCAAACCCGTCCTTGATTGGCTTGAAG
AGAAGTTTAAGGAAGGTGTAGAGTTTCTTAGAGACGGTTGGGAAATTGTTAAATTTATCTCAACCTGTGCTTGTGAAATTGTCGGTGGACAAATTGTCACCTGTGCAAAGGAAA
TTAAGGAGAGTGTTCAGACATTCTTTAAGCTTGTAAATAAATTTTTGGCTTTGTGTGCTGACTCTATCATTATTGGTGGAGCTAAACTTAAAGCCTTGAATTTAGGTGAAACATTT
GTCACGCACTCAAAGGGATTGTACAGAAAGTGTGTTAAATCCAGAGAAGAAACTGGCCTACTCATGCCTCTAAAAGCCCCAAAAGAAATTATCTTCTTAGAGGGAGAAACACT
TCCCACAGAAGTGTTAACAGAGGAAGTTGTCTTGAAAACTGGTGATTTACAACCATTAGAACAACCTACTAGTGAAGCTGTTGAAGCTCCATTGGTTGGTACACCAGTTTGTAT
TAACGGGCTTATGTTGCTCGAAATCAAAGACACAGAAAAGTACTGTGCCCTTGCACCTAATATGATGGTAACAAACAATACCTTCACACTCAAAGGCGGTGCACCAACAAAGG
TTACTTTTGGTGATGACACTGTGATAGAAGTGCAAGGTTACAAGAGTGTGAATATCACTTTTGAACTTGATGAAAGGATTGATAAAGTACTTAATGAGAAGTGCTCTGCCTATAC
AGTTGAACTCGGTACAGAAGTAAATGAGTTCGCCTGTGTTGTGGCAGATGCTGTCATAAAAACTTTGCAACCAGTATCTGAATTACTTACACCACTGGGCATTGATTTAGATGA
GTGGAGTATGGCTACATACTACTTATTTGATGAGTCTGGTGAGTTTAAATTGGCTTCACATATGTATTGTTCTTTCTACCCTCCAGATGAGGATGAAGAAGAAGGTGATTGTGAAG
AAGAAGAGTTTGAGCCATCAACTCAATATGAGTATGGTACTGAAGATGATTACCAAGGTAAACCTTTGGAATTTGGTGCCACTTCTGCTGCTCTTCAACCTGAAGAAGAGCAA
GAAGAAGATTGGTTAGATGATGATAGTCAACAAACTGTTGGTCAACAAGACGGCAGTGAGGACAATCAGACAACTACTATTCAAACAATTGTTGAGGTTCAACCTCAATTAGAG
ATGGAACTTACACCAGTTGTTCAGACTATTGAAGTGAATAGTTTTAGTGGTTATTTAAAACTTACTGACAATGTATACATTAAAAATGCAGACATTGTGGAAGAAGCTAAAAAGGT
AAAACCAACAGTGGTTGTTAATGCAGCCAATGTTTACCTTAAACATGGAGGAGGTGTTGCAGGAGCCTTAAATAAGGCTACTAACAATGCCATGCAAGTTGAATCTGATGATTA
CATAGCTACTAATGGACCACTTAAAGTGGGTGGTAGTTGTGTTTTAAGCGGACACAATCTTGCTAAACACTGTCTTCATGTTGTCGGCCCAAATGTTAACAAAGGTGAAGACAT
TCAACTTCTTAAGAGTGCTTATGAAAATTTTAATCAGCACGAAGTTCTACTTGCACCATTATTATCAGCTGGTATTTTTGGTGCTGACCCTATACATTCTTTAAGAGTTTGTGTAGA
TACTGTTCGCACAAATGTCTACTTAGCTGTCTTTGATAAAAATCTCTATGACAAACTTGTTTCAAGCTTTTTGGAAATGAAGAGTGAAAAGCAAGTTGAACAAAAGATCGCTGAG
ATTCCTAAAGAGGAAGTTAAGCCATTTATAACTGAAAGTAAACCTTCAGTTGAACAGAGAAAACAAGATGATAAGAAAATCAAAGCTTGTGTTGAAGAAGTTACAACAACTCTG
GAAGAAACTAAGTTCCTCACAGAAAACTTGTTACTTTATATTGACATTAATGGCAATCTTCATCCAGATTCTGCCACTCTTGTTAGTGACATTGACATCACTTTCTTAAAGAAAGA
TGCTCCATATATAGTGGGTGATGTTGTTCAAGAGGGTGTTTTAACTGCTGTGGTTATACCTACTAAAAAGGCTGGTGGCACTACTGAAATGCTAGCGAAAGCTTTGAGAAAAGT
GCCAACAGACAATTATATAACCACTTACCCGGGTCAGGGTTTAAATGGTTACACTGTAGAGGAGGCAAAGACAGTGCTTAAAAAGTGTAAAAGTGCCTTTTACATTCTACCATC
TATTATCTCTAATGAGAAGCAAGAAATTCTTGGAACTGTTTCTTGGAATTTGCGAGAAATGCTTGCACATGCAGAAGAAACACGCAAATTAATGCCTGTCTGTGTGGAAACTAAA
GCCATAGTTTCAACTATACAGCGTAAATATAAGGGTATTAAAATACAAGAGGGTGTGGTTGATTATGGTGCTAGATTTTACTTTTACACCAGTAAAACAACTGTAGCGTCACTTATC
AACACACTTAACGATCTAAATGAAACTCTTGTTACAATGCCACTTGGCTATGTAACACATGGCTTAAATTTGGAAGAAGCTGCTCGGTATATGAGATCTCTCAAAGTGCCAGCTA
CAGTTTCTGTTTCTTCACCTGATGCTGTTACAGCGTATAATGGTTATCTTACTTCTTCTTCTAAAACACCTGAAGAACATTTTATTGAAACCATCTCACTTGCTGGTTCCTATAAA
GATTGGTCCTATTCTGGACAATCTACACAACTAGGTATAGAATTTCTTAAGAGAGGTGATAAAAGTGTATATTACACTAGTAATCCTACCACATTCCACCTAGATGGTGAAGTTATC
ACCTTTGACAATCTTAAGACACTTCTTTCTTTGAGAGAAGTGAGGACTATTAAGGTGTTTACAACAGTAGACAACATTAACCTCCACACGCAAGTTGTGGACATGTCAATGACA
TATGGACAACAGTTTGGTCCAACTTATTTGGATGGAGCTGATGTTACTAAAATAAAACCTCATAATTCACATGAAGGTAAAACATTTTATGTTTTACCTAATGATGACACTCTACGT
GTTGAGGCTTTTGAGTACTACCACACAACTGATCCTAGTTTTCTGGGTAGGTACATGTCAGCATTAAATCACACTAAAAAGTGGAAATACCCACAAGTTAATGGTTTAACTTCTA
TTAAATGGGCAGATAACAACTGTTATCTTGCCACTGCATTGTTAACACTCCAACAAATAGAGTTGAAGTTTAATCCACCTGCTCTACAAGATGCTTATTACAGAGCAAGGGCTGG
Understanding the code of life
 What is genetics?

• Study the transmission of information

• From parent to offspring (transmission genetics)

• From DNA to gene action (molecular-developmental

genetics)

• Over many generations within population of organisms

(population-evolutionary genetics)
Five great ideas of biology
• From Nobel laureate Paul Nurse

• The cell as the basic unit of living systems

• The gene as the unit of heredity

• Life as chemistry

• Biology as an organized system

• Evolution by natural selection

• “Biology is evolution, carried out by genes, cells, molecules,

acting alone and in organized systems, as recorded in
genomes”
 The oldest history

• (another) Nobel laureate, Max Delbrück

• “Any living cell carries with it the experiences of a

billion years of experimentation by its ancestors”
Overview of the road
ahead
(Spoiler alert!)
 The central dogma
• Single and multi-gene
Proteins inheritance (Ch 2, 3)
(Ch. 9)

mRNA
• Gene on chromosomes
(Ch 2)
(Ch. 8, 11)
• Interaction between
genes (Ch 5)

DNA • Transcription (Ch. 8) and

(Ch. 7) its regulation (Ch 11)
Gene
(Ch. 2, 3) • Translation (Ch. 9)
 Applications of modern
genetics

• Genomics, sequencing whole genome

• Genetic cause of diseases

• Towards gene therapy

• Direct-to-consumer genetic testing (e.g. 23andMe)

• Synthetic biology
About me
 Textbook for the class
• Introduction to genetic analysis,
Griffiths, 12th edition

• 11th edition is ok

• Multiple purchasing options

available, see course outline

• Solution to the assigned

problems will be posted online

• Assigned readings are

recommended prior to the class
 Online class format
• Live Zoom lectures. Recorded and posted on Moodle.

• Please ask questions, either with the chat or by raising

your hand. I will stop lecturing regularly to answer them.

• All course materials on Moodle

• Slack for communication between students, TAs, and the

instructor

• I’m describing you the plan for the class, which could be
optimized throughout the class
 Slack for “virtual
classroom”
• Join using your full name (free). Behave professionally just
like you would in the classroom.

• Chat application for communication

• Use the appropriate channel for your post. Review and

follow the rules of each channel

• Should be your go-to for questions about the class,

problems, etc.
 How to reach me

• Slack, email

• For any general question about the course, write your

question in the public Slack channel

• Only contact me by email for personal questions

 Tutorials
• Tutorials begin this week (meet with TA and other
students). Problems start next week

• Tutorials meet once a week for 2 hr with a teaching

assistant and ~ 25 students.

• TA will begin with a quick review of the important

concepts, and demonstrate solving a relevant problem
step-by-step

• Work on problems in teams. Problem-solving is central

to this class
 Tutorials (II)
• Student teams of 3 members will work on challenging
problems (Zoom breakout rooms)

• General course flow

• Week 1: Materials in lecture

• Week 2: Problems for discussion in tutorials

• Week 3: Problems for quiz

• See schedule on Moodle

 Grading scheme for the
class

12% Essays

12% Quiz

22% Midterm exam #1

22% Midterm exam #2

32% Final exam

 Quizzes (12%)

• Every week starting the 3rd week (~10 quizzes).

• Will be online, to be completed anytime on Monday

(0:00am to 11:59pm)

• Problems similar to assigned problems, similar to exam.

To prepare you for the exams

• Best 8 quizzes will be counted

 “Essays” (12%)

• Take-home long answer question rather than essay

• Grading scale on Moodle

• Start during second week, every 2 weeks afterward (~6

essays assigned)

• Top 4 essays will be counted

 Exams
• Will be mostly solving challenging problems (NOT memorization)

• Mainly multiple choice, short answer questions, and some long

answer questions

• Online on Moodle

• “Open book”, but you should not need to consult your book or
notes

• Plan for no online proctoring, unless evidence of cheating

• Or if >2/3 of the class would prefer that

 Mendel’s first law -
inheritance for single
gene
 Problems assigned

• Ch 2. #15, 17, 30, 31, 34, 39, 41, 42, 44, 45, 47, 55, 56,
63, 72, 73, 75

• Work in tutorials week of Sep 14th

• Quiz on Monday Sep 21st (Moodle)

What do these have in
common?
 They all originate from the
same plant
• Brassica oleracea (wild cabbage)

• Has been bred into a variety of

cultivars/species

• Kale

• Cauliflower

• Broccoli

• Brussels sprout

• Cabbage, etc.
 We have known the idea of biological
inheritance for a very long time
• “Like begets like”

• Parents resemble their

children

• Plants propagate their

special traits through their
seeds

• Basis for crop domestication,

animal breeding

• Mechanism was unknown

 “Modern” genetics began in
the 1860s with Gregor Mendel

• Described genes and their inheritance

• Work was largely unnoticed until his death

• The laws of inheritance were independently rediscovered

in 1900 by Hugo de Vries, Carl Correns, and Erich von
Tschermak.
 Mendel performed cross pollination
between two pure lines of sweet peas to
study the inheritance of flower color
 X
Pure breeding
line

X
 X
Pure breeding
line

X
 X
Parents

F1
 X
Parents

F1
X

F2
 X
Parents

F1
X

F2

224 white
705 purple
(1:3)
 X
Parents

F1
X

F2

F3
This inheritance ratio was
observed for many traits
 Assumptions in Mendel’s
first law
• There are discrete units of biological inheritance called
genes.

• Each diploid organism has two copies of each gene.

• Genes can have two or more forms, each variant is called

an allele.

• The alleles are either dominant (A) or recessive (a). The

dominant allele gives the appearance (phenotype) in the
heterozygote (Aa).
 Mendel’s first law: equal
segregation of alleles
• During the formation of reproductive gametes, pollen and
ovule, or sperm and egg, only one member of each gene
pair segregates into each gamete.

• Half the gametes carry one member of the gene pair and
half carry the other member of the pair.

• The segregation is random, i.e. each gamete has equal

chance to have either of the members of the gene pair.

• During fertilization, two gametes are united without regard

to which allele they carry, i.e. they combine at random.
 An allele is a mutant version
of a gene (+)

• Phenylketonuria is
caused by a
mutation in the
phenylalanine
hydroxylase (PAH)
enzyme, which
convert
phenylalanine into
tyrosine
 Mutations arise by chance
during cell division (+)

• Errors are made

during DNA
replication
 x Y/y (Self-cross)

Male gametes

Female gametes
 3/4 : 1/4 (75% and 25%)
or

3:1
This ratio means a trait is controlled
by one gene with two alleles.
The dominant allele accounts
for the most abundant class.
Punnett x
Square
Pp x Pp
1/2 1/2
♂
♀ P p

1/2 P
PP Pp
1/4 1/4

1/2 p Pp pp
1/4 1/4

3:1 phenotypic ratio, 1:2:1 genotypic ratio

 X
Parents pp PP

F1
Pp X

F2 1 PP : 2 Pp : 1 pp

F3 PP PP Pp pp pp
 x
Test
Cross – Pp x pp
cross to a
homozygous ♂
recessive ♀ p
individual

1/2 P Pp
1/2

1/2 p pp
1/2

1:1 phenotypic ratio, 1:1 genotypic ratio

Important segregation ratios in
genetic crosses
Phenotypic Genotypic

Aa x Aa 1:3 1:2:1

aa x Aa 1:1 1:1

Others are less “interesting”

Try AA x AA, aa x aa, AA x aa
 What is an allele?

A. An allele is a gene

B. An allele is a variant of a gene

C. An allele is a phenotype

D. An allele is a genotype
Pedigree diagram for showing
phenotype
male
female

parents

siblings

The trait of the affected daughter is caused by a

recessive allele, since the two parents do not have
the trait.
 grandparents

parents

children

The trait is caused by a recessive allele.

Note the grandparents are unaffected.
The trait could be caused by a dominant or recessive
allele.
Probabilities describe events
that happen randomly
• Sometimes we cannot predict the outcome of an event

• Rolling a dice, flipping a coin, segregation of alleles

• However, we can describe their probabilities

• Given a high number of this event, probabilities describe

the expected frequency of a particular outcome

• Notation: P(A) = f, where A is the event, f is the frequency

• e.g. P(rolling a 2 on a regular dice) = 1/6

Probability: the product rule
• The probability of two independent events occurring is the
product of the two individual probabilities.

• P(A and B) = P(A)P(B) if A and B independent events

• Example of independent events:

• P(I’m wearing a white shirt today) and P(you are wearing a

blue shirt)

• Example of non-independent events:

• P(I’m carrying an umbrella) and P(it is raining outside)

 Example of using the
product rule
In the cross Aa x Aa, what is the probability of having
an offspring with genotype aa?

1) The probability of having an individual receiving a

recessive allele from the mother is ½
2) The probability of receiving a recessive allele from
the father is ½

3) The probability of both these events happening is

½x½=¼.
Probability: the sum rule
• The probability of having of having one or the other of
two mutually exclusive events is the sum of their
individual probabilities.

• P (A or B) = P(A)+P(B) if A and B are mutually exclusive

All possible events

P(box) = 1
A

B
 Example of the sum rule
Consider again the cross, Aa x Aa. What is the probability of an
offspring of genotype Aa?
1/2 1/2
♂
♀ A a
P(offspring Aa)
=
1/2 A AA Aa P(a from father and A from mother OR
1/4 1/4 A from father and a from mother)
=
P(a from father and A from mother)+
P(A from father and a from mother)
Aa aa =
1/2 a 1/4 +1/4 = 1/2
1/4 1/4
 Example problem
• The Himalayan phenotype (dark
ears, nose and paws, C) is
dominant to albino (all white, c).

• A cross between a rabbit with

Himalayan coloration and a A. CC and cc
white rabbit produces offspring,
half of which are Himalayan
and half are all white. B. Cc and Cc

• What is the likely genotype of C.cc and Cc

the parent?

• What cross would you do to D. cc and cc

test your hypothesis?
The Himalayan phenotype (dark
ears, nose and paws) is dominant
to albino (all white).

In a cross between a
a rabbit heterozygous for the Himalayan trait and an
albino individual, what % of the offspring will be
have the Himalayan phenotype?

Cc X cc C c

Cc cc
50% Cc - Himalayan c 1/2 1/2
50% cc - albino