BTN222 2019

Introduction: Lecture 1

By: Mohaimin Kasu

mkasu@uwc.ac.za

Forensic DNA Laboratory

Life Science Building
Core 2 level 2
Course overview:
1) Theoretical:
- Model organisms and ethical regulations in genetics
- Mechanisms of inheritance: Cell cycle and Mendelian genetics
- Linage DNA markers ( Y-chromosome and mtDNA)
- Hypothesis testing: ( Chi-squared statistic)
- Phylogenetic , pedigree and mapping.

2) Practical:
- Ethical regulation using human biological samples
- DNA extraction from human biological samples
- DNA quantitative and qualitative assessments
- PCR and sanger sequencing (Scientific poster)
 Timetable and important dates
Lecturers, Tutorials and tests Practical timetable
DATE TOPIC/ACTIVITY
Submission for Due
Date Activity
evaluation Date
April 1 Introduction
April 2 Model organisms in Genetics Task 1: Ethics quiz
April 3 DNA and genome structure
Task 5: DNA
Ethics and DNA extraction
April 8 Cell cycles review extraction flow
05-Apr from human biological
April 9 Mendelian Genetics I diagram
material.
April 10 Mend. Genetics: Hyp. testing 26-Apr

April 15 Pedigrees - Mend Gen II

April 16 Extranuclear inheritance Practical report (attach
April 17 TUTORIAL Quality Control of extracted
12-Apr task 1 and 5 to your
DNA.
report)
April 22 PUBLIC HOLIDAY Sanger sequencing and
April 23 TUTORIAL 26-Apr Scientific poster
analysis
April 24 TEST 3 Follow-up computer
(Print on A4 and 10-May
practical: Bioinformatics,
03-May submit electronic copy
April 29 Chromosomal genetics sequence alignment and
on Ikamva)
April 30 Mapping I analysis.
May 1 PUBLIC HOLIDAY Theory and
10-MayPractical test
calculations
May 7 Mapping II Graphical display of
May 8 17-May experimental results.
Population genetics I Computer lab.
May 9 Pop gen: Hypothesis testing
May 10 Practical test

May 14 Free topic

May 15 Review/TUTORIAL
May 16 TEST 4
 Textbooks
1) Concepts of Genetics. 10th Edition. Klug, Cummings, Spencer
and Palladino. Pearson Ed) -find copy on Ikamva

2) Genetics: A Conceptual Approach by Benjamin A.Pierce

https://archive.org/details/PierceGeneticsAConceptualApproach
Why study genetics ?
Why study genetics ?
Genetic engineering : the direct manipulation of DNA to alter an
organism’s characteristics (phenotype) in a particular way.

Genetically Modified Organism (GMO)

Spider goat: gene from spider inserted into goat.
• Goats makes milk contains extra protein which can be spun into spider silk
• Flexible and stronger than steel. Used in bullet proof jackets.
Glow in the dark cats

• Scientist used a virus to insert DNA from

jellyfish into cats

• Cat express GFP ( green fluorescent protein

in the fur

• To understand new treatments for both

human and feline AIDS
 Hypotheses for inheritance of traits

• Antonie van Leeuwenhoek (1632–1723)

discovered "animalcules" in the sperm of humans
and other animals.

• "little man" (homunculus)

• Ovist hypothesis:
Ovists thought women carried eggs containing boy
and girl children, and that the gender of the offspring
was determined well before conception
Mendel instead hypothesized that each parent contributes some particulate matter
to the offspring. He called this heritable substance "elementen." (Remember, at
this time Mendel did not know about DNA or genes.)
Experimental research needs organisms to
experiment with..

Organisms selected for experimentation have desired traits:

- short generation time, large number of offspring,
- easy to handle in the lab and manipulate

The experimental results and understanding of the problem are

applied to other organisms
Easy to grow, takes 6 week to full maturity and produces may seeds.
Identified key genes regulating organ development and programmed cell death
bread mold
Ethical regulations: Human participants
Working with human participants/biological material in research

1) Clinical trials
2) Genetic/ genomic analysis
3) Population genetic studies

“Scientist do get it wrong”

“Two things are infinite: the

universe and human stupidity; and
I'm not sure about the universe.”
― Albert Einstein
The 30 most disturbing human experiments in history
https://www.bestpsychologydegrees.com/30-most-disturbing-human-experiments-in-history/

30. The Tearoom Sex Study

29. Prison Inmates as Test Subjects
28. Henrietta Lacks
Henrietta Lacks
27. Project QKHILLTOP
26. Stateville Penitentiary Malaria Study
Stateville Penitentiary Malaria Study: Primaquine
25. Emma Eckstein
24. Dr. William Beaumont
Dr. William Beaumont
23. Electroshock Therapy on Children
22. Project Artichoke
21. Hepatitis in Mentally Ill Children
20. Operation Midnight Climax
19. Study of Humans Accidentally Exposed to Fallout Radiation
18. The Monster Experiment
17. Project MKUltra
16. Experiments on Newborns
15. The Aversion Project
14. Medical Experiments on Prison Inmates
13. Sexual Reassignment
12. Effect of Radiation on Testicles
11. Stanford Prison Experiment
10. Syphilis Experiment in Guatemala
9. Tuskegee Syphilis Study
8. Milgram Experiment
7. Infected Mosquitos in Towns
6. Human Experimentation in the Soviet Union
5. Human Experimentation in North Korea
4. Nazi Human Experimentation
3. Unit 731
2. Radioactive Materials in Pregnant Women
1. Mustard Gas Tested on American Military
What is Ethics ?
• Ethics seeks to resolve questions of human morality by
defining concepts such as good and evil, right and wrong,
virtue and vice, justice and crime.

• The Nuremberg Code (WWII).

• The Declaration of Helsinki (1964)
• The Belmont Report (1978)

https://www.youtube.com/watch?v=-O5gsF5oyls
https://www.youtube.com/watch?v=jD-YCDE_5yw
Belmont report: Principles of Research Ethics

1) Respect for Persons

2) Beneficence/Non-Maleficence

3) Justice/Non-Exploitation
1) Respect for Persons

Autonomy
Each individual is unique:
 Freedom of choice
 Has value and dignity; and
 Has the right to informed consent.

Protection for vulnerable persons

 Special protections must be in place for those
whose decision–making capacity is impaired or
diminished, whether due to physical or social
factors ( elderly, children, mentally impaired,
prisoners).
2) Beneficence/Non-Maleficence

o Protection of participants is the most important responsibility

of the researcher

o Researchers must:

o Protect the physical, mental and social well-being of each

research participant;
o Minimizes physical and social risks;
o Maximize the possible benefits; and
 3) Justice/Non-Exploitation

o The fairness in the conduct of research is the principle of

justice/non-exploitation

o Research must:

o Ensure a fair distribution of risks and benefits

o Conduct equitable recruitment of research participants; and
o Provide special protection for vulnerable groups.
 Informed Consent
A verbal and written statement covering the following:

• Research description: what is being studied, what is the

procedure and what is required by participation
• Risks of participating
• Benefits of participating
• Assurances of confidentiality
• Contacts (whom to contact with questions/concerns)
• Voluntary participation and withdrawal
• Signed consent to participate
Important points
• What is a model organism ? (provide examples)

• Can you mention Nobel laureates in biosciences, their discovery

and the importance of their research ?

What requisites are necessary to proceed ethically for human

participation in research?

• What is the Belmont report and what are its 3 principles

regulating ethics ?

• What do you understand by informed consent?

Due 3 May 2019
Do not use !!
• Mullis/ Saiki: Polymerase chain reaction

• Watson/ Crick : structure of DNA

• Marie Curie, Albert Einstein