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Student Learning Guide

The University of the West Indies


Faculty of Medical Sciences, Mona

Introduction to
Molecular
Medicine
MMED 1103
MB,BS Undergraduate Medical Curriculum
Year 1, Semester 1

Introduction to
Molecular
Medicine

MMED 1103
Course Coordinator
Professor Norma McFarlane-Anderson
Section of Biochemistry

Cell Biology

About this course


This 3-credit course is one of three which
dealing with the development and
differentiation of cells, tissues and organs.
It begins in semester 1 and ends in semester
2 of year 1. This course covers medical
aspects of genetics including population
genetics. Molecular techniques used in
diagnosis and treatment are presented and
ethical implications surrounding the
application of molecular biology to
medicine are also introduced.
The teaching staff is primarily drawn from
the Section of Biochemistry with input from
the Tropical Medicine Research Institute
and the Department of Pathology and
Microbiology.

Aim of the Course

Cell Biology

Restriction enzyme - A bacterial endonuclease that


recognizes specific base sequences in DNA and breaks the
DNA chain at those points
Ribosomes - Complex of protein and ribosomal RNA
(rRNA) that catalyzes the translation of mRNA into an
amino acid sequence
RNA (ribonucleic acid) - A single stranded nucleic
acid (may fold back on itself to form double-stranded
regions), having ribose as sugar and uracil rather than
thymine as one of its bases
Splicing - The removal of introns and joining of exons in
RNA; introns are spliced out and exons are spliced
together
tRNA - A class of small RNA; molecules that take
specific amino acids to the ribosome during translation
such that amino acids are inserted to form a polypeptide
chain
Wild type - The genotype or phenotype found in nature
or in a standard laboratory stock

The aim of this course is to introduce you to


the principles of Molecular Biology, and to
show how they are used to understand and
treat human disease. It builds on the
fundamentals of the structure and basic
functions of nucleic acids and proteins,
covered in Cell Biology (CBIO 1201) and
serves as an important foundation for your
understanding of advances in genetics and
developments in modern medical research.

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Cell Biology

Cell Biology

Locus Chromosomal - location of a gene or other


piece of DNA

Useful Revision

Marker allele - Any allele of interest in an experiment

Students beginning this course should have


a basic knowledge of cell structure and the
biology and chemistry of cells. It will be
useful to browse through the glossary and to
review some of the basic principles of
genetics and nucleic acid structure from
your early science studies.

Marker DNA - Fragment of known size used to


calibrate an electrophoretic
mRNA (messenger RNA) - An RNA molecule
transcribed from the DNA of a gene, and from which a
protein is translated by the action of ribosomes
Missense - A single base change mutation that
alters an amino acid in the gene product
Mutation - A process that produces a gene or
chromosome set different from that of the wild type or the
result of such a process
Nucleases - Enzymes that can degrade nucleic acids by
breaking the phosphodiester bonds
Nucleotide - A molecule composed of a base, a sugar
and a phosphate group; the basic building block of nucleic
acids
Oncogene - A gene that has sustained some genetic
damage and, therefore, produces a protein capable of
cellular transformation
Polymorphism - A variation in DNA sequence within a
population
Prokaryotic cell - A cell with no nuclear membrane,
hence, no separate nucleus
Proto-oncogene A gene whose protein product
normally controls the cell cycle but has the capacity to
induce cellular transformation given it sustains some
genetic insult.

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Core Content
The following general areas are covered
1. DNA, RNA structure, chromosomes, genes,
genetic code, gene expression, mutations,
genome diversity, laboratory manipulation of
nucleic acids
2. How genes are inherited, population genetics
3. Molecular techniques, emphasizing those used
in diagnosis and treatment
4. Molecular medicine in practice recombinant
proteins, gene therapy, pharmacogenomics, the
Human Genome Project (HGP).
5. Ethical considerations and implications in the
application of molecular biology to medicine.

More specifically, the course focuses on the


following principles:
DNA as genetic material, double helix, genetic
code, central dogma
Genome diversity bacterial, viral and retroviral
genomes, plasmids, extrachromosomal DNA

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Cell Biology

DNA replication , transcription


Translation/protein synthesis splicing in
haemoglobin and immunoglobulin synthesis,
post translational modifications

Antibiotic action on bacterial replication and


protein synthesis
Population genetics: inheritance, linkage

Mutations: focus on haemoglobinopathies

Inborn errors of metabolism

DNA and RNA isolation

Chromosome karyotyping, in situ hybridization

Recombinant DNA technology hybridization,


Polymerase Chain Reaction (PCR), trangenesis
Production of recombinant proteins, monoclonal
antibodies
The Human Genome Project (HGP)
applications, ethical issues
Gene therapy, pharmacogenomics

Cell Biology

Genome - The complement of genetic information


unique to each species of organism
Haploid set of chromosomes - One copy of each
autosome and one sex chromosome; characteristic of germ
cells
Heterozygote - An individual with different alleles of a
particular gene, e.g. HbAS (sickle cell trait)
Histone - A type of basic protein that forms a unit
around which DNA is tightly coiled in the nucleosomes of
eukaryotic chromosomes
Homozygote - An individual with identical alleles for a
particular gene, e.g. HbAA (normal), HbSS (sickle cell
disease)
Hybridization - Variety of related techniques based on
observation that two singlestranded nucleic acids of
complementary base sequences will form a double-stranded hybrid.
Hyperchromicity - The increase in optical density that
occurs when DNA is denatured
Introns (intervening sequences) - DNA that is
transcribed but not translated into protein.

Student Learning Objectives


On completion of this course, you should be
able to:
describe how DNA was shown to be the genetic
material
describe how DNA replicates itself and how
mutations may arise
explain how the information carried in DNA is
translated into synthesis of proteins

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Karyotype - The entire chromosomal complement of cell


or species (as visualized during mitosis)
Linkage - The association of genes on the same
chromosome
Linkage disequilibrium - A situation in which some
combinations of genetic markers occur more or less
frequently in the population than would be expected from
their distance apart

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Cell Biology

Glossary of terms
Allele - One of the different forms of a gene that can
exist at a single locus on a chromosome
Autosomes - All the chromosomes except the sex
chromosomes; found in somatic cells
cDNA - A singlestranded DNA complementary to an
RNA from which it was synthesized using reverse
transcriptase
Clone - A large number of cells or molecules derived
from a single ancestral cell or molecule

Cell Biology

Denaturation - Conversion from the double-stranded to


the single-stranded state, most often accomplished by heat

Diploid set of chromosomes - Contains two copies of


each autosome and two sex chromosomes

DNA (deoxyribonucleic acid) - A double chain of


linked nucleotides (having deoxyribose as their sugars);
the fundamental unit of which genes are composed
Eukaryotic cell - A cell containing a nucleus

Exons - DNA sequences that are transcribed into protein


structures

Gene therapy - Introduction of a fully functional and


expressible gene into a target cell, aimed at correcting a
specific disease permanently

Gene - Fundamental physical and functional unit of


heredity; a segment of DNA that makes transcription
possible
Genetic code - The correspondence between triplets in
DNA (or RNA) and amino acids in protein

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explain antibiotic action at the level of


replication and protein synthesis
state the central dogma of molecular biology
explain how some viruses do not conform to this
dogma
explain how some retroviruses may cause
disease
describe how mutations may lead to disease e.g.
sickle cell, cystic fibrosis, thalassemias
compare and contrast the genomes of
prokaryotes and humans and discuss the
diversity in relation to disease and treatment
describe methods for isolation and purification
of DNA, hybridization
describe the techniques of PCR, Restriction
Fragment Length Polymorphism (RFLP),
sequencing, DNA fingerprinting, transgenesis
and in situ hybridization
relate these techniques to their uses in the
diagnosis of genetic and infectious diseases and
in forensic medicine
describe the use of molecular biology techniques
in the production of recombinant proteins and
antibodies
provide an overview of the Human Genome
Project (HGP)
describe the fundamentals of somatic gene
therapy
discuss the ethical issues associated with these
techniques, the HGP, gene therapy and
pharmacogenomics

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Cell Biology

Teaching/Learning Methods
These will include lectures, tutorials,
practical laboratory sessions, visits to
laboratories on and off-site and computer
based sessions. In addition to the three
listed, there are also many informative
websites which can be accessed.
Not all of the objectives will necessarily be
covered in the lectures and students are
encouraged to use the learning objectives
provide in this guide and the clinical
problems they will see to guide their selfstudy.
Regular small group discussion is an
excellent way of reviewing and reinforcing
your knowledge and students are
encouraged to use this approach to learning
not only in formal activities but throughout
their programme of study.

Cell Biology

The standards and pass mark for the


examination is determined by the examiners.
Further details on the assessment process
can be found in the student handbook.
The regulations governing this examination
are determined by the general regulations
covering all University examinations and as
laid out in the specific Faculty regulations.

Useful Resources
Textbooks

Assessment
On completion of this course, students will
be assessed by a written (Multiple Choice
Question) examination paper. However,
attendance at the practical sessions is
mandatory and a student must obtain a
satisfactory grade on the written report.
Failure to do so may result in the student
being debarred from writing the final
examination.

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Textbook of Biochemistry with Clinical


Correlations, Fourth edition, Editor T. M. Devlin
Human Genetics: Concepts and Applications,
5/e
Ricki Lewis, ISBN: 007246268x. Copyright
year: 2003
Molecular Biotechnology, Principles and
Applications of Recombinant DNA. 3/e. Bernard
R. Glick and Jack J. Pasternak ISBN: 1-55581224-4 Copyright year:2003

Useful Websites

http://www.ncbi.nlm.nih.gov/About/primer/gene
tics.html
http://en.wikipedia.org/wiki/Genetic_fingerprinti
ng
http://www.genome.gov/10001772

Prepared handouts

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