The subject of Genetics is the first one related to the study of the transmission of biological characteristics in the Degrees of Biology, Biochemistry and Molecular Biology, and Biotechnology. For this reason, in this subject the basic contents of genetic inheritance are presented: the types of hereditary transmission, as well as the analysis of methodologies that are applied in the different types of organisms.

The course focuses mainly on the genetic analysis of eukaryotic organisms, where the fundamentals of Mendelian inheritance and other more complex situations that alter the genotype/phenotype relationship are analyzed. The effects caused by changes in the gene sequence and in the structure and number of chromosomes, the bases of genetic improvement in animals and plants, and general aspects of Population Genetics are also considered. Less exhaustively, the mechanisms of transfer of genetic information in bacteria and viruses, and their evolutionary and health effects, are evaluated. Procedures for the resolution of practical cases are also worked on, using examples of heritable characters, real or fictitious, in different species of eukaryotes, including the human species. The subject uses various training resources worked in teams, which facilitate autonomous learning, stimulate interest in the subject, promote individual responsibility in cooperative work, develop verbal and written communication skills, and encourage critical thinking and reasoning.

Previous knowledge in Genetics is not required, but it is advisable to have studied Biology in High School and have a basic knowledge of some subjects of the 1st year of the degrees in Biosciences (subjects such as Cellular Biology and Biochemistry), and the calculation of probabilities worked in Biostatistics, as well as in High School Mathematics. Given its basic nature, the contents of this subject are essential to advance in the compulsory and/or optional subjects in the Genetics area and in subjects from other related areas that participate in the Biosciences Degrees, such as Molecular Biology, Cellular Biology, Anthropology or Microbiology.

When students finish this subject:

1. They understand the basic principles of inheritance and apply them for the correct resolution of simple cases of transmission of characters.

2. They know the influence that the existence of physically linked genes has on heredity, the effect of multiple genes involved in the same character and the environment on phenotypic expression, and are able to recognize and reasonably interpret biological characters that show forms of complex transmission.

3. They understand the molecular mechanisms involved in genetic and epigenetic changes and recognize their effects on phenotypic expression.

4. They identify factors that influence the inheritance of quantitative traits and the evolution of populations, and are able to predict in a basic way what will happen to traits subjected to selective forces or other evolutionary factors.

5. They cooperatively solve simple cases of genetic counseling using specialized databases.

6. They plan, design, and carry out simple research projects as a team, which they later present in the form of a scientific article.

7. They develop skills for safe work in the laboratory and for the correct handling of chemical compounds and biological agents, and of the chemical and biological residues that are generated.

8. They critically develop valid conclusions (reasoned and justified) through efficient and comprehensive management of the information acquired.

THEORIA

INTRODUCTION

1.- History of Genetics. Definition of Genetics. Parts of Genetics. Basic concepts.

CELL DIVISION, MENDELISM AND THE CHROMOSOME THEORY OF INHERITANCE

2.- Topography of chromosomes and Cell Division. Mitosis and cell cycle. Meiosis and sexual reproduction.

3.- Basic principles of the inheritance of a single gene. Mendelian inheritance. Mendel's experimental method. Monohybrid cross: principle of equivalent allelic segregation. Dominance and recessiveness. The test cross and its importance. Probability and genetic events. Pedigree analysis.

4.- Basic principles of the inheritance of several independent genes. Principle of independent segregation. Dihybrid and polyhybrid cross. The test cross with several genes. Evaluation of genetic data: Chi-square analysis. Chromosomal theory of heredity.

MODIFICATIONS TO MENDELISM: EFFECT OF THE LOCATION OF THE GENE IN THE CHROMOSOME

5.- Genes located in sexual chromosomes: Linkage to sex. Pedigree analysis. Gene determination and sexual differentiation. Other situations: genes located in mitochondria and chloroplasts.

6.- The inheritance of linked genes. Complete or partial linkage of genes located on the same chromosome. Meiotic recombination and genetic mapping. Three point mapping. Interference and coincidence coefficient.

MODIFICATIONS TO MENDELISM: INTERACTION AND VARIATION IN PHENOTYPIC EXPRESSION 7.- Allelic and gene interaction. Allelic interaction: complete dominance, partial dominance and codominance. Multiple alleles and lethal alleles. Pleiotropy. Gene interaction: epistasis, new phenotypes, other modifications. Complementation analysis.

8.- Variation of the phenotypic expression. Penetrance and expressiveness. Influence of the genetic background and influence of the environment. Epigenetics: Imprinting, X chromosome inactivation. Influenced and sex-limited inheritance.

9.- Quantitative Genetics. Polygenic inheritance. Statistical methods for the analysis of quantitative characteristics. Heritability and estimation methods.

CHROMOSOMAL ALTERATIONS IN EUKARYOTES

10.- Changes in the structure of chromosomes. Mechanisms and types. (a) Deletions (b) Duplications (c) Pericentric and paracentric inversions (d) Translocations

11.- Changes in the number of chromosomes. (a) Euploidy: monoploid, diploid, polyploid. Autopolyploidy and allopolyploidy. (b) Aneuploidy: nullisomies, monosomies and trisomies. (c) Somatic aneuploidies: mosaicism vs. chimerism.

POPULATION GENETICS

12.- Population Genetics. Allelic and genotypic frequencies. Hardy–Weinberg equilibrium. Balance test. Non-random crosses: consanguinity. Processes that change gene frequencies. Mutation. Migration. Genetic drift: founder effect and bottlenecks. Natural selection, fitness and alteration of allelic frequencies.

GENETIC ANALYSIS IN BACTERIA

13.-Recombination in Bacteria. Gene transfer mechanisms: (a) Conjugation: F+ and Hfr strains. F' factors and sexduction. (b) Transformation: phases. (c) Generalized and specialized transduction. Genetic maps in bacteria. Recombination in bacteriophages and genetic maps in viruses.

PROGRAMMING OF LABORATORY PRACTICES (P) AND SEMINARS (S)

P1- Observation and analysis of the human karyotype

S1- A practical case of genetic counseling

P2- Identification of mutants in Drosophila

S2- Experimental design in Drosophila to determine the inheritance of two phenotypic characters

P3- Directed crosses in Drosophila and phenotypic analysis of the offspring

The subject uses four face-to-face teaching modalities (master classes, classroom practices, laboratory practices and seminars) in which various activities are performed.

- In the master classes, fundamental theoretical concepts of Genetics are worked on and their application to the resolution of practical cases of transmission of characters with qualitative and quantitative variation, and their application to problem solving.

- In seminar classes, laboratory practices and classroom practices, the student is introduced to the bases of genetic counseling and the principles of experimentation (hypothesis development, experimental design, execution of the experiment, analysis of results, discussion and conclusions and preparation of scientific articles). These activities are carried out in groups of four people whose composition is maintained for the entire course.

The teaching team is fully coordinated in terms of the types of activities that are performed and the schedules of the different activities, both between groups of the same subject and between subjects of the same course.

• Continuous Assessment System
• Final Assessment System
• Tools and qualification percentages:
  • Written test to be taken (%): 20
  • Multiple-Choice Test (%): 20
  • Realization of Practical Work (exercises, cases or problems) (%): 20
  • Team projects (problem solving, project design)) (%): 40

The continuous evaluation system includes the evaluation of training activities carried out in teams and a final individual test in the form of an exam.

1) The written tests worked in teams include the resolution of theoretical and practical problems and the preparation of reports related to the laboratory and seminar sessions (40% of the overall grade). The evaluation of each member of the team will be individualized based on the level of commitment and personal involvement. To pass the subject, a minimum participation in team activities of 80% and a minimum mark of 5 are required.

2) The final written test, whose evaluation constitutes 60% of the overall mark for the subject, consists of test questions, short questions and two problems. To pass the subject, a minimum of 4 (out of 10) is required in each of the sections.

Students under continuous evaluation can refuse exam call at any time until a month before the ending of the classes. However, it is recommended to declare the intention to renounce continuous evaluation before the end of the third week of teaching period.

During the development of the final test, the use of books, notes, as well as telephone, electronic, computer or other devices, by students will be prohibited. Only calculator is allowed. In case of dishonest or fraudulent practice, the protocol of UPV/EHU with regard to academic ethics and prevention of dishonest or fraudulent practices will be applied.

For all students (regardless of whether they take a continuous or final assessment), it will be enough not to attend the final test to be <>.

In the extraordinary call, the evaluation system will be similar to that followed in the ordinary call. The positive results of the continuous assessment obtained by the students during the course are saved. In case of negative results in the continuous evaluation, the final evaluation test will constitute 100% of the mark for the subject. During the development of the final test, the use of books, notes, as well as telephone, electronic, computer or other devices by students will be prohibited. Only calculator is allowed. Only calculator is allowed. In case of dishonest or fraudulent practice, the protocol of UPV/EHU with regard to academic ethics and prevention of dishonest or fraudulent practices will be applied.

For all students (regardless of whether they take a continuous or final assessment), it will be enough not to attend the final test to be <>.

Teachers will provide students with the following material:
THEORY SCHEMES AND FIGURES COLLECTION to facilitate the monitoring of classes on theoretical content.
COLLECTION OF PROBLEMS: this collection will be the basic material for learning how to solve cases. It will be used during master classes and must be used by the student as material for personal work.
LABORATORY PRACTICE PROTOCOL: including the objectives of each activity, its technical development and some questions that each student must answer during or after completion of the corresponding practice. It is mandatory to read the protocol before carrying out the corresponding practice.
PROTOCOL FOR THE SEMINARS: the objectives of each activity and the necessary documentation are included.
All this documentation will be available to the students in the virtual classroom of the subject, sufficiently in advance.

Basic bibliography

.- BROOKER RJ (2017) Genetics. Analysis & Principles. 6/e. McGraw Hill (978-1259921650)

.- GRIFFITHS AJF, WESSLER SR, CARROLL SB, DOEBLEY J (2015) An introduction to genetic analysis. 11/e. FREEMAN AND CO (978-1429229432)

.- HARTL DL, JONES EW (2017) Genetics. Analysis of Genes and Genomes. Jones and Bartlett Publishers 9/e. (978-1449635962)

.- HARTWELL L, GOLDBERG L, FISCHER JA, HOOD L, AQUADRO CF (2017) Genetics. From Genes to Genomes. 6nd edition. McGraw-Hill (978-0073525310)

.- KLUG WS, CUMMNINGS MR, SPENCER CA, PALLADINO MA. KILLIAN D (2019) Concepts of Genetics (978-1292265322)

.- PIERCE BA (2020) Genetics: A Conceptual Approach. Freeman & Company. 7/e

.- PIERCE BA (2021) Genetics Essentials. Concept and Connections. 5/e. MacMillan 9781319383367

In-depth bibliography

.- CONKITE, D. (2008) A problem-based guide to Basic Genetics. Ed. Thomson.

Journals

Nature Review Genetics
Nature
Science

Web addresses

https://ocw.ehu.eus/course/view.php?id=397
https://www.ucm.es/genetica1/apuntes-de-genetica
www.segenetica.es/docencia.php
www.ncbi.nlm.nih.gov/sites/entrez?db=omim
www.biologia.arizona.edu/mendel/mendel.html
www.genome.gov/sglossary.cfm
teknopolis.elhuyar.org/
www.zientzia.eus/