1

BIOLOGY 1A03
Cellular and Molecular Biology

Academic Property Statement

Please note that no part of this lecture may be reproduced, in any form or by any means, without permission in writing
by the Biology 1A03 professor Dr. Lovaye Kajiura. No visual media, voice recordings, PowerPoint slides, pdfs, MP3,
MP4 media, or lecture-related information may be reproduced or communicated by any means. Copying Biology 1A03
lecture materials for distribution, for example uploading materials to a commercial website, is strictly prohibited.

Copyright 2023 © L. Kajiura, McMaster University, Biology 1A03

 2
McMaster University’s Land Acknowledgement
We recognize and acknowledge that McMaster University
meets and learns on the traditional territories of the Mississauga
and Haudenosaunee nations, and within the lands protected by
the “Dish With One Spoon” wampum, an agreement amongst all
allied Nations to peaceably share and care for the resources
around the Great Lakes

To say that is to acknowledge a debt to those who were here

before us and to recognize our responsibility, as guests, to
respect and honour the intimate relationship Indigenous peoples
have to this land.
 3

BIOLOGY 1A03
Cellular and Molecular Biology

Theme 5 Principles of Inheritance

APPLIED Lecture
Module 1 Genetic Variation & Module 2 Meiosis
 4

BIOLOGY
1A03

THEME 5 Principles of Inheritance

APPLIED LECTURE
Module 1 Genetic Variation & Module 2 Meiosis
 5
The Human Life Cycle
Key Haploid gametes (n = 23)
Haploid (n)
Egg (n)
Diploid (2n)

Sperm (n)
MEIOSIS FERTILIZATION

Ovary Testis
Diploid
zygote
(2n = 46)

Mitosis and
development

Multicellular diploid
adults (2n = 46)
 6
Nondisjunction

View the Powerpoint

slide, which is posted on
Avenue, and click on
the “Play” button
towards the bottom of
the image to view the
animation.
 7
Nondisjunction
• Failure of two homologous
chromosomes to pass to
separate cells during Meiosis I

• Failure of the two

chromatids of a
chromosome to pass to
separate cells during
Meiosis II
 8
What is Aneuploidy?

abnormal number of certain

chromosomes

individuals have too many or too few of

specific chromosomes
 9
What is a Karyotype

Organized
display of the
homologous
pairs of
chromosomes
and the sex
chromosomes.
 10
Amniocentesis & Chorionic Villus Sampling
 11
How do you make a Karyotype?
 12
How do you make a Karyotype?
 13
Why are Karyotypes useful?

They are useful for genetic screening to

identify specific chromosomal defects in
their number, size, & type.
Alterations of Sex Chromosomes 14

Klinefelter Syndrome
Alterations of Sex Chromosomes 15

Klinefelter Syndrome
Males have an extra X number
of
sex chromosomes, XXY.

Very small testes & are sterile.

Feminine body contours

(enlargement of breast tissue)

Normal intelligence.
 16
Trisomy (a type of aneuploidy)

Individuals have 3 copies

of a certain chromosome.
 17
Alterations in autosomes – Down Syndrome
 18
Alterations in autosomes – Down Syndrome

Trisomy Chromosome 21
 19
Patau Syndrome – Trisomy of Chromosome 13
 20
Patau Syndrome
Trisomy of Chromosome 13

Severely mentally challenged

Cleft palate

Deaf

Malformed organs
 21
Patau Syndrome
 22
Edwards Syndrome
 23
Edwards Syndrome
 24
Edwards Syndrome
Trisomy of Chromosome 18

Small newborns

Low set ears, webbed neck,

receding chin

Organ malformations
Alterations of Sex Chromosomes 25

Turner Syndrome
Alterations of sex chromosomes 26

Turner syndrome
XO female

a viable human
monosomy
short stature, webbed
neck
shield like chest
internal sex organs do not
mature, females are sterile
Alterations of sex chromosomes 27

Turner syndrome
Alterations of sex chromosomes 28

Triple X Syndrome
Alterations of sex chromosomes 29

Triple X Syndrome
XXX
usually normal phenotype and fertile,
others have variable expression
Alterations of Sex Chromosomes 30

Jacobs Syndrome

http://trialx.com/curetalk/wp-content/blogs.dir/7/files/2011/05/diseases/Xyy_Syndrome-1.jpg
 31
XYY Jacobs Syndrome

normal male,
but much taller than average

normal fertility & intelligence

 32
Why do Mistakes Occur?

Meiotic errors seem to be accidental in their

occurrence.

Generally mistakes occur without any genetic

predisposition.
 33
Why do Mistakes Occur?

Larger
percentage
due to
Maternal
Errors.
 34
Why do Mistakes Occur?

Frequency of occurrence increases with age of mother.

 35
Normal Cell vs Cancer Cell
Extra copies of chromosomes
Two copies of each chromosome
& some missing chromosomes

http://berkeley.edu/news/media/releases/2007/06/images/chromosome.jpg
 36
Aneuploidy & Cancer

• Mitotic chromosome instability is a characteristic of many cancer

cells.

• There seems to be relationship between aneuploidy and tumour

formation.

• This may lead to aneuploidy and activation of oncogenes &

inactivation of tumour suppressors.
 37
Research Advances
Ghulam Mufti

https://www.dailymotion.com/video/x1c7kfq Watch segment

30:34-35:33
 38

BIOLOGY
1A03
Next Lecture …

THEME 5 Principles of Inheritance

REVIEW LECTURE
Module 3 Sex Chromosomes & Linkage
Module 4 Our Personal Genome