National Commission for Academic Accreditation &
Assessment
Course Specification
Institution
Salman Bin Abdulaziz University
College/Department College of Applied Medical Sciences
Department of Medical Laboratory Sciences
A Course Identification and General Information
1. Course title and code: Medical Genetics / MLAB 484
2. Credit hours: 2 + 1=3 hours/week
3. Program(s) in which the course is offered.
(If general elective available in many programs indicate this rather than list programs)
Medical Laboratory Science
4. Name of faculty member responsible for the course
Dr. Saleh A.S. Al-Abdulhadi (Male Section)
Dr. Noura Al-Dayan (Female Section)
5. Level/year at which this course is offered: Level 8/4th year
6. Pre-requisites for this course (if any): MLAB 475 "Molecular Biology"
7. Co-requisites for this course (if any)/ None
8. Location if not on main campus, College of Applied Medical Science.
Male Sections
Female Section
1
B. Objectives
1. Summary of the main learning outcomes for students enrolled in the course
To provide students with a required knowledge and skills to be able to describe the DNA and chromosomal
basis of inheritance and how alterations in DNA or chromosome number or structure may arise during
mitosis and meiosis and be able to describe Mendelian and non-Mendelian modes of inheritance. Students
also should understand the role of genetic factors in health and disease and the role of genetic and
environmental factors in multifactorial conditions such as congenital anomalies, cancer, diabetes and
psychiatric illness. Also student will be able to identify patients who are under the risk of genetic disorders
and be able to take a family history and conduct a pedigree. In addition they will be able to understand the
concept of heterogeneity and its effects on a genetic disease and the potential impact on diagnosis. The
students will be understand the clinical features and most genetic techniques been used for laboratory
diagnostic including Karyotyping, PGD for number of common Mendelian diseases, cancer, common
chromosomal disorders, dysmorphic or malformation syndrome, teratogens in human congenital anomalies.
2. Briefly describe any plans for developing and improving the course that are being implemented. (eg increased use
of IT or web based reference material, changes in content as a result of new research in the field)
Use of new web based material –collaboration between the laboratories teacher and the lectures staff
member .So that the laboratories will always coincide with theoretical lectures.
C. Course Description (Note: General description in the form to be used for the Bulletin or
Handbook should be attached)
This course provides an understanding to basic concepts of population genetic, risk calculation,
basic Mendelian genetics, cell division and genetic alterations, medical genetic basis of hereditary
diseases including (Mendelian and complex disease). It also covers general aspects of drawing
pedigrees and understanding genetic patterns of single gene, polygenic and chromosomal
disorders in human. It introduces the concepts of basic genetic screening techniques, PGD and
application of cytogenetic.
2
1 Topics to be Covered
No of
Weeks
1
Contac
t hours
2
2,3
2
3- Genetic patterns of inheritance
 single-gene or monogenic defect (X –linked, autosomal recessive, and
autosomal dominant)
 mitochondrial disorder
 chromosomal imbalance
 multifactorial condition
4
2
4- Genetic variations and mutation
 Single base substitutions
 Insertions and deletions
 Chromosomal mutations
 Mitochondrial mutations
5
2
5- Molecular diagnosis in medicine: Suggestion clinical application of genetics
 Techniques used in genetic diagnosis ( chromosome analysis , DNA
sequencing )
 Genetic screening
 PGD
7
2
8
2
List of Topics
1- Introduction to Medical Genetics:
 Understand the field of medical genetics
 Role of gene in human disease
 Reviewing DNA and chromosome structures
 Mitotic cell division and Reduction division (Meiosis).
 Mendelian Laws (first and second), their relation to meiosis.
2- Population genetic:
 Definition.
 HWD low.
 Common terms in population genetic.
 Application of HWD and allelic frequencies
(First Mid-Term exam).
6- Hemoglobinpathic diseases:
 Sickle cell disease
 Thalassemia
 Definition
 Pathology
 Genetic mutation
 Genetic screening
3
7- Infection diseases and neurological disorders:
 Examples
 Definition
 Pathology
 Genetic mutation
 Genetic screening
9
2
8- Cancer genetics:
 Examples
 Definition
 Pathology
 Genetic mutation
 Genetic screening
10
2
11.12
2
13
2
11- Genetic counselling:
 Definition
 Case report
14
2
12- Tutorial
15
2
13- Final Exam
16
2
9- Metabolic disorders and complex disease
 Examples
 Definition
 Pathology
 Genetic mutation
 Genetic screening
(Second Mid-Term Exam)
10- Congenital malformations:
 Examples
 Definition
 Pathology
 Genetic mutation
 Genetic screening
Laboratory Schedule
Safety and Precautions in pre-PCR, PCR and post-PCR: avoiding
contamination; how to handle DNA samples
Calculus (chemical and PCR mix preparation)
4
1 week
2
1 week
2
Buffer and Electrophoresis
- TAE Stock Buffer
- TBE Stock Buffer
- Agarose Gel
- Polyacrylamide Gel (PAGE)
- Stains
Cytogenetic
DNA Extraction
RNA Extraction
Tissue Extraction
PCR Amplification
Design Primers
Reagents to be used (Kit)
DNA Marker (Ladder)
Bioinformatics:
- Database of Genes
- Gene Bank
- Gene Map
Technique used after PCR (Sequencing)
Technique used after PCR (SSCP)
(Mid-Term Exam)
Technique used after PCR (Restriction Enzymes)
Technique used after PCR (Mutation Detection)
Risk calculation and Application HWD
Tutorial
Final practical exam
1 week
2
1 week
2 weeks
2
2
1 week
2
1 week
2
1 week
1 week
2
2
1 week
1 week
1 week
1 week
1 week
2
2
2
2
2 Course components (total contact hours per semester):
Lecture:
28 hours
Tutorial:
Laboratory
4
28 hours
Practical/Field
work/Internship
Other:
N/A
N/A
3. Additional private study/learning hours expected for students per week. (This should be an average: for the
semester not a specific requirement in each week)
4. Development of Learning Outcomes in Domains of Learning
For each of the domains of learning shown below indicate:

A brief summary of the knowledge or skill the course is intended to develop;

A description of the teaching strategies to be used in the course to develop that knowledge or skill;

The methods of student assessment to be used in the course to evaluate learning outcomes in the domain
concerned.
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a. Knowledge
(i)
Description of the knowledge to be acquired
 By the end of the course, students should be able to:
1- Understand and describe the mechanisms that underpin human inheritance
a) Be able to describe gene structure, expression and regulation.
b) Be able to describe the chromosomal basis of inheritance and how alterations
in chromosome number or structure may arise during mitosis and meiosis
c) Be able to describe Mendelian and non-Mendelian modes of inheritance.
2- understand the role of genetic factors in health and disease
a) Understand how mutations can affect gene dosage and function.
b) Understand the use of polymorphisms as genetic markers.
c) Be aware of the role of genetic and environmental factors in multifactorial
conditions such as congenital anomalies, cancer, diabetes and psychiatric illness.
d) Be aware that population ancestry may affect the frequency of susceptibility alleles and of
Mendelian diseases.
3- Be able to identify patients with, or at risk of, a genetic condition
a) Be able to take a family history and construct and interpret a pedigree.
b) Understand the clinical implications of phenomena such as incomplete penetrance,
variation in expression, anticipation and new mutations.
c) Be aware of the possibility of heterogeneity in a genetic disease and the potential impact
on diagnosis.
d) Understand the principles of risk estimation in Mendelian disease.
e) Be aware of examples of clinical indicators that suggest an inherited predisposition to
cancer.
f) Be able to describe clinical features of common Mendelian diseases.
g) Be able to describe clinical features of common chromosomal disorders.
h) Be aware of the types of clinical features which suggest a dysmorphic or malformation
syndrome.
i) Be aware of the roles of genes and teratogens in human congenital anomalies.
4- Understand genetic as a whole & use this knowledge in their work and in the laboratory.
5- Identify the medical importance of Genetics techniques, and their role in investigation of
genetic diseases.
(ii)
Teaching strategies to be used to develop that knowledge
Acquisition of knowledge is achieved mainly through lectures, practical classes, problem solving
classes, laboratory sessions, course work, essays and projects.
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(iii)
1.
2.
3.
Methods of assessment of knowledge acquired
Written exam.
Practical exam.
Oral exam.
b. Cognitive Skills
(i)
Description of cognitive skills to be developed
By the end of the course, students should be able to:













Connect between theoretical lectures and lab work.
Be familiar with the uses and limitations of genetic testing and the differences between testing and
screening
Understand the distinction between genetic screening and genetic testing.
Distinguish between diagnostic, presymptomatic, carrier and susceptibility genetic testing.
Know that ‘genetic tests’ can include clinical examination, metabolite assays and imaging as well as
analysis of nucleic acid.
Recognize the main laboratory techniques to investigate genetic material and their advantages and
limitations.
Know the main methods for sampling genetic material for prenatal diagnosis.
Interpret a standard genetics laboratory report (cytogenetic and molecular genetics).
Identify the parameters governing population genetic screening, current population genetic
screening programs and guidelines for the introduction of such programs.
Choose the best laboratory investigation to verify the presence of certain genetic diseases and
interpret the clinical and laboratory findings to reach a proper diagnosis.
Possess practical experience in cytogenetic techniques used in basic and applied research
laboratories.
Know the theory behind each genetics technique and describe common applications of each
methodology in genetic research.
Ability to think critically and analytically.
(ii) Teaching strategies to be used to develop these cognitive skills


Application of essential scientific techniques through lectures, classes, essays, practical lessons
and projects.
Analysis and solution of scientific problems through group discussion and class work.

Application of laboratory techniques through particle lab.
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(iii) Methods of assessment of students cognitive skills







First Mid Term Examination
Second Mid Term Examination
Quizzes and discussion
Mid Term Practical Examination
Final Practical Examination.
Oral presentation
Final theoretical examination.
c. Interpersonal Skills and Responsibility
(i) Description of the interpersonal skills and capacity to carry responsibility to be developed
By the end of the course, students should be able to:
-
-
Act in responsible ethical manners and in personal and professional relationship
Ability of self-learning including using learning resources and websites
Take responsibility for their own learning and continuing personal and professional development
Ability of work effectively individually and in team
Learn effectively from a range of resources like: lectures, books, websites and scientific literatures
Communicate genetic information in an understandable, nondirective manner, being aware of the
impact genetic information may have on an individual, family and society.
Be able to communicate the concept of risk in a manner that can be understood by a patient.
Be aware of major ethical issues in genetics.
Identify procedures that ensure laboratory safety.
(ii)





(iii)



Teaching strategies to be used to develop these skills and abilities
Tasks assignment
Engage students in workgroup and let the chance to practice leadership and teamwork.
Engage students in carrying out internet research.
Improvement students’ performance in practice their duties and responsibilities.
Engage student in small projects.
Methods of assessment of students interpersonal skills and capacity to carry responsibility
Oral examination.
Observation of student ethical and moral behavior.
Evaluation of student’s assays, assignments and search work.
d. Communication, Information Technology and Numerical Skills
(i) Description of the skills to be developed in this domain.
After completion of this course student will be able to:

Encourage the use of internet search strategies to study.
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



Recognize and respect the views and scientific opinions of others.
Communicate effectively in English, both oral and written.
Use information and communication technology.
Skills in searching for primary and secondary scientific literature relevant to specific topic.
(ii) Teaching strategies to be used to develop these skills




Evaluation of student essays
Seminar evaluation.
Information technology duties and presentation.
Final exams should insured in English language.

Marks give to good report and presentation.
(iii) Methods of assessment of students numerical and communication skills
-Evaluation of students essays and assignments
e. Psychomotor Skills (if applicable)
(i)





Description of the psychomotor skills to be developed and the level of performance required
Undertake laboratory investigations in responsible and follow safety regulation.
The ability to analyse and critically evaluate experimental data.
Ability to interpret and discuss data and results.
Respect the scientific ethics and laws of professional and express honestly in recording and
presenting data.
Ability to build argument to defend a scientific opinion.
(ii) Teaching strategies to be used to develop these skills
Explain processes to be used develop required psychomotor skills as specified in course learning
outcomes like:





Laboratory classes involving all aspect of practical and professional skills.
Developed through the study skills for scientific and quantitative methods.
Applied throughout the reporting of laboratory exercises.
Engage student in analysis and evaluation of their practical work.
Training on methods of data manipulation and presentation.
(iii)Methods of assessment of students psychomotor skills
Explain how psychomotor skills will be assessed.
1. Practical and professional skills will be assessed through tasks and reports
2. In class tests
3. Coursework reports
5. Schedule of Assessment Tasks for Students During the Semester
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Assessment
Assessment task (eg. Essay, test, group project,
examination etc.)
Week due
1
First Mid Term Examination:
At 7th week
Proportion of
Final
Assessment
0
2
Second Mid Term Examination:
At 12th week
0
3
Quizzes and attendance:
at the first of
each lecture
0
4
Mid Term Practical Examination:
8th week
0
5
Final Practical Examination:
At 14th week
0
6
Final Theoretical Examination:
at the end
course
0
D. Student Support
1. Arrangements for availability of teaching staff for individual student consultations and academic advice.
(include amount of time teaching staff are expected to be available each week)
-
I can be contacted during my official hours.
I can be contacted by e-mail.
E Learning Resources
1. Required Text(s)
2.
Essential References
Text Books & Lectures.
Genetic in Medicine, Through six editions, Thompson & Thompson. Robert Nussbaum MD
(Author), Roderick R. McInnes MD PhD FRS(C) (Author), Huntington F Willard PhD (Author)
Human Molecular Genetics,3rd edition 2003. Tom Strachan, Andrew Read. Garland
Science/taylor& Francis Group.
Emery's Elements of Medical Genetics: With Student CONSULT Online Access (Paperback) by
Peter Turnpenny MD ,Sian Ellard MD
4-.Electronic Materials, Web Sites etc
-The electronic versions of hand-outs, power point presentations and study questions for every
class are available
1- www.CDC.com
2- www.kumc.edu/gec/prof/soclist.htm
3- www.genetics.org/
10
4567-
http://learn.genetics.utah.edu/
http://www.maxanim.com/genetics/
http://bio-alive.com/animations/genetics.htm
NCBI main website http://www.ncbi.nlm.nih.gov/
8- http://micro.nwfsc.noaa.gov/protocols/ (Molecular Biology Protocols)
9- http://www.ncbi.nlm.nih.gov (Sequence database search and analysis
5- Other learning material such as computer-based programs/CD, professional standards/regulations
Library access
F. Facilities Required
Indicate requirements for the course including size of classrooms and laboratories (ie number of seats in
classrooms and laboratories, extent of computer access etc.)
1. Accommodation (Lecture rooms, laboratories, etc.)


Lecture rooms and laboratories must accommodate the number of students.
Classroom atmosphere must be supportive of learning, for interactions and civility.
2. Computing resources


Specify requirements for computer access (data show in each classroom and desktop computer
as well as printer in teacher office).
Fast internet access.
3. Other resources (specify -eg. If specific laboratory equipment is required, list requirements or attach list)


Well qualified laboratories technicians.
Well established lab. supported with all materials and equipment needed to apply basic
genetics works .
G Course Evaluation and Improvement Processes
1 Strategies for Obtaining Student Feedback on Effectiveness of Teaching



Direct contact with the students
Confidential completion of standard course evaluation questionnaire.
Focus group discussion with small groups of students.
2 Other Strategies for Evaluation of Teaching by the Instructor or by the Department
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





Self-independent evaluation
Observations and assistance from colleagues.
Independent assessment of standards achieved by students,.
Independent advice on assignment tasks.
Feedback of the head department.
Peer review
3 Processes for Improvement of Teaching



Workshops on teaching methods.
Attendance
Opinions of students and our colleagues
4. Processes for Verifying Standards of Student Achievement (eg. check marking by an independent member
teaching staff of a sample of student work, periodic exchange and remarking of tests or a sample of assignments
with staff at another institution)
-
Check marking of a sample of examination papers or assignments tasks
5 Describe the planning arrangements for periodically reviewing course effectiveness and planning for
improvement.
- Compare syllabi and courses description with other universities that available on the net.
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