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Salman Bin AbdulAziz UNIVERSITY
COLLEGE OF APPLIED MEDICAL SCIENCES
DEPARTMENT OF Medical Laboratory Science
Female Sector
COURSE SYLLABUS
Course Title:
Medical Genetics
Course Number:
MLAB 484
Credit Hours:
3
Course Instructors: Dr/ Noura Al-dayan
Course Description: This course is concerned with theoretical and practical knowledge of Medical
Genetics.
Course objectives:
Upon successful completion of this course, the student should be able to:
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Understand basic concepts of Mendelian genetics.
Understand chromosomes structure in human, chromosomes classification& chromosomal aberrations
(numerical and structural anomalies).
Understand the essential knowledge and information about the genetic basis of hereditary diseases
and cancer, Variation and Mutation.
Identify inheritance patterns of single gene, polygenic and chromosomal disorders in human.
Identify different techniques used in genetics and the related technologies in diagnosis.
Instructed in the theory, practice and applications of various molecular biology techniques such as
recombinant molecular biology and practical laboratory experience of cytogenetic techniques,
Fluorescence In-Situ Hybridization (FISH) & modern molecular techniques such as DNA
Sequencing.
Understand the applications and values of these techniques in the investigation of genetic diseases.
Course Outline:
Week 1: Introduction to Medical Genetics: prokaryotic and eukaryotic DNA and genome, Mitotic
cell division, Reduction division (Meiosis).
Week 2: Basic Concepts in Genetics (Define genetics, Define genes, some important genetic terms,
Explain the importance of chromosomes and genes in heredity.)
Week 3:
Mendelian Laws
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Week 4: Variations on Mendel: Polygenic Inheritance, Multiple Alleles (Explain the genetic basis of
ABO blood group), Incomplete Dominance, Codominance, Explain the deviations from Mendelian ratio.
Define sex inheritance &sex-linked traits with examples, Pedigree charts for genetic studies in humans,
autosomal dominant & autosomal recessive genetic disorders.
Week 5: Chromosomes: Structure, Nomenclature& Classification in human.
Week 6: Chromosomal aberrations: Numerical anomalies. Some examples of numerical chromosomal
disorders in human.
Week 7: Chromosomal aberrations: Structural anomalies. Some examples of structural chromosomal
disorders in human.
Week 8: Sex Determination and Linkage: Explain the mechanism of sex determination, Describe sex
linked inheritance as in color blindness and haemophilia in man. Explain the relevance of genetics in
disputed paternity.
Week 9: Variation: Define variation,Differentiate between continuos and discontinuous variations.
Explain the role of meiosis in causing variation.
Week 10: Mutations: Definition, State the causes of mutation, List and describe the kinds of mutation.
Examples of some disorders caused by mutation in human, Explain the role of mutation in variation.
Week 11: Single-Gene disorders in human: Autosomal dominant. Autosomal recessive. X-linked &
Y-linked. Some examples of single gene disorders.
Week 12: Polygenic diseases in human.
Week 13:
Cancer Genetics
Week 14: Genetic Screening
Week 15:
Revision
Teaching Methods:
1- Lectures using visual aids
2- Class discussion
Grading:
- Midterm Examination: First and second (15%+15%)
- Final practical (30%)
- Final examination (Theoretical 40%)
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References:
REQUIRED TEXTBOOK:
1. Concepts of Genetics (9th Edition) by William S. Klug, Michael R. Cummings, Charlotte A. Spencer
and Michael A. Palladino
2. Genetics: Analysis and Principles by Robert J. Brooker
3.
Molecular Biology, Robert Weaver, WBC McGraw Hill, NY. 2001, ISBN 00072345179.
4. Genetics principles and analysis by Paniel L. Hartl. Publisher: Gareth Stevens Publishing; 4th edition
(January 15, 1998) | ISBN: 076370489X.
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