Guía Docente 2020-21
FUNDAMENTOS DE GENÉTICA

BASIC DETAILS:

Subject: FUNDAMENTOS DE GENÉTICA
Id.: 33288
Programme: GRADUADO EN BIOINFORMÁTICA. PLAN 2019 (BOE 06/02/2019)
Module: CIENCIAS DE LA VIDA
Subject type: MATERIA BASICA
Year: 2 Teaching period: Primer Cuatrimestre
Credits: 6 Total hours: 150
Classroom activities: 65 Individual study: 85
Main teaching language: Inglés Secondary teaching language: Castellano
Lecturer: Email:

PRESENTATION:

The main objective of this subject is to introduce the student to the basic principles of Genetics in order to prepare them to understand more specialized courses of bioinformatics area. The students will also practice the use of bioinformatic tools to analyse sequences of genes and to design their own experiments mainly. Moreover, they will also carry out laboratory practices to learn the use of ordinary laboratory equipment related to Molecular Genetics.

PROFESSIONAL COMPETENCES ACQUIRED IN THE SUBJECT:

General programme competences G03 Cooperate to achieve common results through teamwork in a context of integration, collaboration and empowerment of critical discussion.
G05 Communicate professional topics in Spanish and / or English both orally and in writing.
G07 Choose between different complex models of knowledge to solve problems.
G08 Recognise the role of the scientific method in the generation of knowledge and its applicability to a professional environment.
G10 Apply creativity, independence of thought, self-criticism and autonomy in the professional practice.
Specific programme competences E18 Apply statistical and computational methods to solve problems in the fields of molecular biology, genomics, medical research and population genetics.
E20 Relate the overall functioning of the organism with the basic mechanisms at the cellular and molecular level.
E21 Apply computational and data processing techniques for the integration of physical, chemical and biological concepts and data for the description and/ or prediction of the activity of a substance in a given context.
Learning outcomes R01 Explain the molecular basis of the gene.
R02 Describe the fundamentals of the processes that determine the transmission and expression of genetic information.
R03 Interpret family trees.
R04 Explain the causes and consequences of genetic variation.
R05 Interpret real situations with a genetic basis, in the laboratory, in nature or in society.
R06 Analyse genetic data or DNA / protein sequences using computer tools.

PRE-REQUISITES:

Basic knowledge of Introduction to Bioinformatics and Biochemistry and Molecular Biology subjects.

 

SUBJECT PROGRAMME:

Observations:


The planned content of some dates could change depending on the progress of the students.

Subject contents:

1 - INTRODUCTION TO GENETICS
    1.1 - History
    1.2 - Concept of gene
    1.3 - General organization of genomes
    1.4 - Chromosome structure
    1.5 - Variations in chromosome structure and number
    1.6 - Structure of DNA and RNA
    1.7 - DNA replication and recombination
    1.8 - Transcription and RNA processing
    1.9 - Translation
    1.10 - Control of gene expression
2 - HUMAN GENOME
    2.1 - Mitochondrial DNA
    2.2 - Non-coding DNA
    2.3 - Gene mutations
    2.4 - DNA repair
3 - BASIC PRINCIPLES OF HEREDITY
    3.1 - Genetic terminology
    3.2 - Mendel's laws
    3.3 - Modifications to Mendel's laws
    3.4 - Linked genes
    3.5 - Gene interactions
    3.6 - Sex-linked characteristics
4 - CANCER GENETICS
    4.1 - Oncogenes and tumor-suppresor genes
    4.2 - Other factors associated with cancer
5 - MOLECULAR GENETIC ANALYSIS AND BIOTECHNOLOGY
    5.1 - PCR technique
    5.2 - Sequencing methodologies
    5.3 - Recombinant DNA
    5.4 - Restriction endonucleases
    5.5 - Vectors
    5.6 - DNA microarray
    5.7 - Applications of biotechnology: family trees, identification of therapeutic targets, genetically modified biomodels
6 - INTRODUCTION TO PHARMACOGENETICS AND PHARMACOGENOMICS
    6.1 - Interindividual variability to response to drugs
7 - GENE THERAPY
    7.1 - Principles of gene therapy
    7.2 - CRISPR methodology
    7.3 - Applications of gene therapy
8 - ETHICS
    8.1 - Ethical considerations about genetic research principles

Subject planning could be modified due unforeseen circumstances (group performance, availability of resources, changes to academic calendar etc.) and should not, therefore, be considered to be definitive.


TEACHING AND LEARNING METHODOLOGIES AND ACTIVITIES:

Teaching and learning methodologies and activities applied:

The content of this subject will be organized in different kinds of sessions:

Theoretical sessions. Master classes will be developed with the use of information tecnologies (ICT). Lecturer will promote the active participation of the students to check their understanding of the content and to encourage them to express their opinions and doubts about it. Practical examples and case stories will be analysed to practice and apply the theory of the subject. Visualization of videos will be used as a support material of the content. Students will defend their group work orally at class. Some theory sessions will be used for group tutorial by the lecturer.

Practical sessions. Laboratory practices will be carried out to learn the use of basic laboratory equipments and materials. Theoretical content will be focused on data analysis and results interpretation.

Tutorial sessions. Students will be able to ask for individual tutorial sessions (cbgarcia@usj.es).

Plagiarism is not allowed. If plagiarism is detected by the lecturer, San Jorge University regulation (compiled in academic guide for students) will be applied.

Student work load:

Teaching mode Teaching methods Estimated hours
Classroom activities
Master classes 25
Practical exercises 1
Practical work, exercises, problem-solving etc. 3
Films, videos, documentaries etc. 6
Laboratory practice 4
Other practical activities 15
Assessment activities 8
Tutorials 3
Individual study
Individual study 36
Individual coursework preparation 20
Group cousework preparation 8
Research work 5
Recommended reading 16
Total hours: 150

ASSESSMENT SCHEME:

Calculation of final mark:

Written tests: 20 %
Individual coursework: 15 %
Group coursework: 15 %
Final exam: 35 %
Laboratory practice : 15 %
TOTAL 100 %

*Las observaciones específicas sobre el sistema de evaluación serán comunicadas por escrito a los alumnos al inicio de la materia.

BIBLIOGRAPHY AND DOCUMENTATION:

Basic bibliography:

PIERCE, Benjamin A. Genetics: a conceptual approach. New York: W.H. Freeman and Company, 2017.
PASSARGE, Eberhard. Genética. Texto y atlas. Madrid: Editorial Médica Panamericana, 2010.
MARTIN BRIEVA, Humberto. Fundamentos de biotecnología farmacéutica. Madrid: Dextra, 2018.

Recommended bibliography:

GONZÁLEZ DE BUITRAGO, José Manuel; MEDINA JIMÉNEZ, José María. Patología Molecular. Madrid: McGraw-Hill Interamericana, 2002.
KLUG, William S; CUMMINGS, Michael R; SPENCER, Charlotte A. Conceptos de genética. Madrid: Prentice Hall, 2006.
GRIFFITHS, Anthony JF; GELBART, William M; MILLER, Jeffrey H; LEWONTIN, Richard C. Genética Moderna. Madrid: McGraw-Hill Interamericana, 2000.
SOLARI, Alberto Juan. Genética humana. Fundamentos y aplicaciones en Medicina. Buenos Aires: Editorial Médica Panamericana, 2011.
SÁNCHEZ-CARO, Javier; ABELLÁN, Fernando. Medicina Genética Clínica del siglo XXI. Consideraciones científicas, éticas y legales. Granada: Fundación Salud 2000, 2009.
STRACHAN, Tom; READ, Andrew P. Genética humana. México: Mc Graw-Hill Interamericana, 2006.
JIMÉNEZ VILLA, J; ARGIMÓN PALLÀS, JM; MARTÍN ZURRO, A; VILARDELL TARRÉS, M. Publicación científica biomédica. Como escribir y publicar un artículo de investigación. Elsevier, 2010.
GROVES, Michael J. Pharmaceutical Biotechnology. Boca Raton: CRC Press, 2006.
WATSON, James D; BAKER, Tania A; BELL, Stephen P; GANN, Alexander; LEVINE, Michael; LOSICK, Richard. Biología molecular del gen. Madrid: Editorial Médica Panamericana, 2008.

Recommended websites:

OMIM ® - Online Mendelian Inheritance in Man ® http://www.ncbi.nlm.nih.gov/omim/
PUBMED http://www.ncbi.nlm.nih.gov/pubmed/
WEB OF KNOWLEDGE http://sauwok.fecyt.es/apps/UA_GeneralSearch_input.do?product=UA
GENECARDS V3 - HUMAN GENES http://www.genecards.org/
GENBANK http://www.ncbi.nlm.nih.gov/genbank/
BLAST http://blast.ncbi.nlm.nih.gov/Blast.cgi?PAGE=Nucleotides
PRIMER3 http://frodo.wi.mit.edu/primer3/
BIOEDIT http://www.mbio.ncsu.edu/bioedit/bioedit.html
WATCUT http://watcut.uwaterloo.ca/watcut/watcut/template.php?act=snp_new
UNIPROT https://www.uniprot.org/


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