2010-11 Academic Year

General Genetics (20344)

Qualification/course: Bachelor's Degree in Human Biology

Year: 2

Term: 3

Number of ECTS credits: 4

Number of study hours: 100

Course Language(s):

Teaching Staff: Victoria Campuzano, Miguel del Campo and Maria Segura

1. Presentation of the course

General Genetics is a compulsory subject of the Bachelor's degree in Medicine, which has a teaching load of 4 ECTS credits and which is taught in the third term of the second year of the degree.

 

The teaching activities will be given by Victoria Campuzano, who will be the coordinator, Miguel del Campo and María Segura.

2. Competences to be achieved

During the teaching of the subject, it is intended that the student achieve the competences required by the educational authorities set out in the course plan of the degree. These are the following:

 

a) To know and understand the basic principles of genetics.

b) To know and understand the processes of gene transmission, expression and regulation.

c) To know and understand the bases of inheritance.

 

The teaching purpose of the subject is to allow the student to:

 

a) master the basic principles of genetics, the nature of DNA and the laws of transmission of genetic information between generations.

b) learn the underlying logic of constructing a recombination map or a physical map.

c) know and understand the population forces that determine the direction of genetic variation.

d) be aware of the hierarchical cascade underlying the regulation of gene expression in development.

e) be capable of integrating basic genetic concepts into the rest of the subjects taught.

f) be able to easily handle the different sources of written and online information which allow the student to obtain the necessary additional material to study specific aspects of genetics at a deeper level.

 

3. Content

Theory syllabus:

 

Module 1. Introduction. The historical context of genetics. Importance of genetics in medicine, biology and society. Information sources.

Module 2. DNA, its structure, replication and recombination.

Module 3. Structure of chromosomes and transposable elements.

Module 4. Transcription. Structure and synthesis of RNA. Prokaryotic transcription. Eukaryotic transcription.

Module 5. Control of gene expression in bacteria and eukaryotes.

Module 6. Cellular and sexual reproduction. Mitosis and meiosis.

Module 7. Mendelian inheritance. Chromosome behaviour and Mendel's laws. Principles of segregation. Probability and genetic events.

Module 8. Modifications to Mendelian segregation. Dominance variation. Sex linkage. Sex-influenced inheritance. Epigenetic effects. Phenotype expression: penetrance, expressivity, phenocopies.

Module 9. Yeast as a model system. Genetics of yeasts.

Module 10. Genetics of prokaryotes. Genetic mapping in bacteria. Bacterial chromosomes. DNA of mitochondria and chloroplasts.

Module 11. Genetic linkage. Significance and estimation of recombination frequency. Additivity and interference. Mitotic recombination.

Module 12. Mutation. Types of mutation. Molecular basis of mutation. Somatic and germinal mutation. Spontaneous mutation. Genomic instability and repair. Mutation rate. Nomenclature. Mobile genetic elements. Mechanisms of transposition.

Module 13. Genetics of quantitative characters. Continuous variation. Mendelian basis of continuous variation. Genotype and environmental variation. Heritability: concept and estimation.

Module 14. Population genetics. Gene and genotype frequencies. Hardy-Weinberg equilibrium. Application to human genetics and genetic advice.

Modules 15-16. Techniques for analysis and manipulation of DNA. Enzymatic tools and vectors. Hybridisation techniques. PCR. General applications. Tracking mutations. Sequencing. Expression analysis. Microarrays.

Problem-solving seminars:

PRO1. Structure and function of nucleic acids.

PRO2. Mendelism.

PRO3. Recombination in prokaryotes and yeasts.

PRO4. Mutation.

PRO5. Genetics of quantitative characters.

PRO6. Population genetics.

Laboratory practicals:

PRA1.Obtaining nuclear and mitochondrial DNA. Differences.

PRA2. Obtaining RNA. Control of transcription.

PRA3. Mendel (FlyLab and Corn Cob sets).

PRA4. Population genetics (blood groups). Analysis of allele frequencies.

4. Assessment

a) Assessment methods:

 

Assessment will be done via multiple choice tests (with five options, of which one answer is correct, removing success by guesswork) and via the correction of the problems approached throughout the course and the practical laboratory reports.

 

b) Type and number of assessments

 

1. Throughout the course, during six sessions, problems will be solved and these will be corrected and assessed. The students will present the solutions to the problems in groups at the beginning of the seminar.

2. Halfway through the teaching process there will be a multiple choice test (PEM) whose result will have an impact on the student's final mark.

3. At the end of each practical class the students will submit a report on the class, which will be assessed.

4. During the period planned for final assessments, there will be a multiple choice test to evaluate the goals planned in the theory classes, in the practical classes and in the problem-solving sessions.

 

c) Impact of the different types of assessment on the final official mark:

 

Final assessment:

Multiple choice test: 60 %

Assessment during the course:

 

Problem solving: 15%

Individual practical guide: 15%

Multiple choice test: 10%

d) Criteria for passing the course:

To pass the course the student must:

a) Participate in the formative activities. Specifically, attendance at practical activities is monitored.

b) Obtain a minimum mark of 4 in the multiple choice test in the final assessment.

Note: Any kind of copying or fraud will lead to failure of the course.

5. Bibliography and teaching resources

5.1. Basic bibliography

There is no single ideal textbook that exactly and completely covers the course programme. The three books recommended in the basic bibliography are excellent reference texts for general genetic concepts, including human genetics. There are also two books in Spanish. The books listed in the additional bibliography are exercises to broaden the practical comprehension of genetics.

1. GRIFFITHS, A. J. F.; GELBART, W.; MILLER, J. H. & LEWONTIN, R. C. 1999. Modern genetic analysis. New York: McGraw-Hill Interamericana.

2. FERNÁNDEZ-PIQUERAS, J.; FERNÁNDEZ PERALTA, A. M.; SANTOS HERNÁNDEZ, J.; GONZÁLEZ AGUILERA, J. J. 2002. Genética. Barcelona: Ariel Ciencia.

3. KLUG, W. S. & CUMMINGS, M. R. 1997. Concepts of Genetics. 5th ed. Macmillan Publishing Company.

Books translated into Spanish:

1. BENJAMIN A. PIERCE, 2006. Genética, un enfoque conceptual. 2ª ed. Editorial Médica Panamericana.

2. KLUG, W. S. , CUMMINGS, M. R. and SPENCER 2006 Conceptos de Genética. 8a ed. PEARSON Prentice Hall.

5.2. Complementary bibliography

Books of problems to solve:

BENITO, C. 1997. 360 problemas de genética. Madrid: Síntesis.

LAVETT, D. K. 1996. Student companion with complete solutions for "An Introduction to Genetic Analysis, 6ª ed. New York: W. H. Freeman & Co.

VISERAS, E. 1998. Cuestiones y problemas resueltos de genética. Granada: Ed. Universidad de Granada.

5.3. Teaching resources

There is no single ideal textbook that exactly and completely covers the course programme. Summaries with the content of each theoretical Module, as well as the problems to be solved (and later on their solutions) will be uploaded to the Aula Global.

In addition, the students can use the following resources:

- Compendium of resources made by the UPF Library: http://www.upf.edu/bib/guies/guies.htm?opcio=2

- Teaching resources:

Genome Project: http://www.nhgri.nih.gov/educationkit/

http://www.clunet.edu/BioDev/omm/exhibits.htm#top

MIT Biology Hypertextbook: http://web.mit.edu/esgbio/www/

http://www.tokyo-med.ac.jp/genet/mfi-e.htm

- Societies:

Spanish Genetics Society: http://seg.umh.es/

6. Methodology

a) Lectures

The course consists of a theory syllabus that includes 16 Modules covering general genetics.

Summaries with the content of each Module will be uploaded to the Aula Global.

b) Problem solving

To provide the best incentive for active learning by the students, genetics problems related to the subject, and according to models done in the theory classes, will be set each week. These problems should be solved either individually or in groups.

The problems, and later on their solutions, will be uploaded to the Aula Global.

c) Problem-solving seminars

Six seminar sessions will be held for debating and monitoring the problems solved by the students.

d) Laboratory practicals

Four practical laboratory sessions are planned to cover experimental and design aspects of various areas of genetics, with the aim of consolidating the information taught in the lectures.

The practicals will be done in groups of 15 students. Each practical will take place over two weeks, during which time each group will have one day assigned to it, such that all the groups perform the practical at the same time and they should coincide with the theory classes. The practical tasks should be completed individually and guide should be submitted at the end of each class, including the answers to any questions set.

 

7. Programme of activities

The programme of activities of the course is included in the official degree timetable.