Molecular Genetics

Code:

MI111

Acronym:

GMOL

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2020/2021 - 1S (of 14-09-2020 to 07-02-2021)

Active?	Yes
Responsible unit:	Departamento de Biomedicina
Course/CS Responsible:	Integrated Master in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMED	304	Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular)	1	-	6	55	162

Teaching language

Portuguese

Objectives

The main objective of the UC “Molecular Genetics ” is to transmit student the more recent knowledge about the dynamics of the human genome and the mechanisms that allow molecular information transmission from DNA to protein.  Indeed, the syllabus is extensively dedicated to molecular mechanisms of maintenance of integrity of the genome, methodology employed for study, diagnostic and gene-based therapies. This UC also includes a strong laboratory component that elucidates how to get the knowledge, and integrative scientific papers discussion sessions. The teaching staff includes professors that investigate the basic mechanisms of molecular biology and specialists in human genetics, too.

Learning outcomes and competences

After approval, the students should demonstrate the knowledge necessary to:

 

- describe the structure and function of the molecule of DNA

- discuss the mechanisms of storage and decoding of the genetic information (central dogma of  Molecular Biology)

- explain the human genome dynamics  and the mechanisms of DNA repair

- discriminate the mechanisms of regulation of gene expression

-discriminate  the epigenetic mechanisms of regulation of gene expression

- identify  the methodology currently employed for the study of the human genome and the sequences of DNA

- describe the molecular mechanisms that take place in cell nucleus

- identify the experimental models for gene expression manipulation and the principles and applications of gene therapy

- identify the techniques of molecular biology necessary to the resolution of biological problems

- autonomously execute techniques of  molecular biology

- presenting and critically discussing scientific publication on the scope of the UC

 

Working method

Presencial

Program

Theoretical contents:

 
Introduction to Genetics. Historical perspective.

 

DNA: structure

 

DNA: replication

 

DNA: repair

 

DNA: recombination and transposition

 

Analysis and localization of nucleic acids

 

Recombinant DNA techniques

Epigenome analysis

 

The substrate of genetic information: technologies

 

Diagnostic techniques in molecular genetics

 

Human genome

 

Bioinformatics

 

Transcription: messenger RNA

 

Functional protein domains

 

Transcription: ribossomal and transfer RNA

 

Control of gene expression

 

Epigenetic mechanisms of control of gene expression

 

Cell nucleus.Transport and nucleus-cytoplasm interaction

 

Protein synthesis

 

Genetic engineering . Experimental models for manipulation of genetic expression. RNAi

 

Gene therapy

 

Practical contents:

Extraction and quantification of DNA

PCR amplification of DNA electrophoresis analysis

Cell nucleus

Bacteria transformation with recombinant DNA

DNA plasmid digestionwith restriction enzymes. Analysis of the  restriction map

DNA sequencing

Bioinformatics  (analysis of genetic mutation )

Advanced techonology of DNA analysis

 

Mandatory literature

Lodish, Berk, Kaiser, Krieger, Scott, Bretscher, Ploegh, Matsudaira; Molecular Cell Biology, 7 th ed., Freeman and company, New York, 2012
Strachan, Tom, Read, Andrew ; Human Molecular Genetics 4 , 4th ed. , New York and London, Garland Science, 2010
Ricki,Lewis; Human Genetics, Concepts and Applications 10th Ed. , McGraw-Hill, 2012
Alberts, Bray, Lewis, Raff, Roberts and Watson; Molecular Biology of the Cell 6th ed, Garland Publishing, Inc. New York, 2014

Complementary Bibliography

Cooper; The Cell. A Molecular approach, 7th ed. , AMS Press, U.S.A., 2016

Teaching methods and learning activities

The lesson plan comprises lectures, lasting one hour each, and practical classes, 2 hours each. These hands-on practical classes will always be supervised by a teacher in 4 groups of 3-4 students in a molecular biology laboratory. Additionally, practical microscopy lessons with a microscope for each student will also integrate the course.

Sessions for presenting and discuss scientific papers will be mandatory, and each student should prepare an oral presentation.Blended-learning will be used in this UC, considering that  for each content, a  summary will be made available  in  the internet page of the da UC, and for theoretical sessions the complete file of the presentation  and scientific papers will be also offered. This internet page allows the interaction among students and teachers through a forum of questions relative to the contents of the UC.

 

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Prova oral	15,00
Teste	75,00
Trabalho laboratorial	10,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Apresentação/discussão de um trabalho científico	20,00
Elaboração de relatório/dissertação/tese	10,00
Estudo autónomo	77,00
Frequência das aulas	55,00
Total:	162,00

Eligibility for exams

Presence at 7 of 10 practical classes

Calculation formula of final grade

Final assessment will be constituted by a final test (T) and parcel assessment, corresponding to 2 reports from practical learning (Rl) and presentation of a scientific paper (Art), quoted  75% (E) and 25% (RI and Art), respectively. Students must reach a minimal classification of 9.5 (out of 20) following the formula below. Any parcel of formula needs a minimum level.

0.75 (PI sum or T)+0.1Rl+0.15Art.

Final test (T):  quoted to 20 marks consists  of  25 multiple choice questions with discount system (8 marks), 3 exercises, two relative to theoretical, and one to practical contents, respectively  (6 marks), 1 essay question (3 marks), and 12 short-response questions relative to practical learning (3 marks)

 

Reports from practical learning (Rl): the results, obtained during the laboratory sessions that aimed to decipher a biological problem, will be described by the students in two reports during the semester (10 marks each).

 

The presentation of the scientific paper (Art)  will be quoted in the maximum of 20 marks.

The grade obtained in the final test (T) could be improved in  supplementary exam. The grade obtained in the continous evaluation components, practical reports (Rl) and presentation of the scientific paper (Art), could not be increased in the school year.

 

Classification improvement

Possible.