Esta materia proporciona os coñecementos básicos sobre a herdanza e a variación dos seres vivos, así como a base metodolóxica propia da análise xenética mendeliana. Complementa outras materias do grao e aporta a base conceptual necesaria para profundar no estudo da Xenética, contemplado nas materias Xenética Molecular (obrigatoria de 3º curso), Xenética Evolutiva e de Poboacións (obrigatoria de 3º curso), e Citoxenética (optativa).
Study programme competencies
Code
Study programme competences
A1
Recoñecer distintos niveis de organización nos sistemas vivos.
A2
Identificar organismos.
A4
Obter, manexar, conservar e observar especímenes.
A11
Identificar e analizar material de orixe biolóxica e as súas anomalías.
A12
Manipular material xenético, realizar análises xenéticas e levar a cabo asesoramento xenético.
A20
Muestrear, caracterizar e manexar poboacións e comunidades.
A26
Deseñar experimentos, obter información e interpretar os resultados.
A29
Impartir coñecementos de Bioloxía.
A30
Manexar adecuadamente instrumentación científica.
A31
Desenvolverse con seguridade nun laboratorio.
B1
Aprender a aprender.
B2
Resolver problemas de forma efectiva.
B3
Aplicar un pensamento crítico, lóxico e creativo.
B4
Traballar de forma autónoma con iniciativa.
B5
Traballar en colaboración.
B6
Organizar e planificar o traballo.
B8
Sintetizar a información.
B9
Formarse unha opinión propia.
Learning aims
Learning outcomes
Study programme competences
Mendelian genetic analysis: the gene as unit of inheritance
A1 A12 A26 A29 A30 A31
B1 B2 B3 B5
To study the chromosomal basis of inheritance, sex determination, extranuclear inheritance as well as genetic linkage and recombination.
A1 A4 A12 A26 A29 A30 A31
B1 B2 B3 B4 B5 B6 B9
To learn about changes in the genetic material
A2 A11 A26 A29
B1 B2 B3 B5 B9
To set the basis of quantitative and population genetics
A1 A20 A26 A29 A30 A31
B1 B2 B3 B5 B6 B8
Contents
Topic
Sub-topic
1. Introduction to Genetics
Definition of Genetics
History of Genetics
Genetics and other sciences
Genetics and society
2. Mendelian Genetics
Mendel’s experiments: mono and dihibrid crosses
Concept of geno and phenotype
Terms and symbols
Pedigree analysis
3. Chromosomal Basis of Inheritance and Sex Determination
Genetic implications of mitosis and meiosis
Chromosomal theory of inheritance
Sex determination
Sex-linked inheritance
Sex-limited and sex-influenced traits
Gene dosage compensation
4. Extensions of and Deviations from Mendelian Genetic Principles
Modification of dominante relationships
Multiple alleles
Lethality
Penetrance and expressivity
Pleiotropy
Gene interaction and epistasis
Position effect
Environmental interactions
5. Genetic Mapping in Eukaryotes
Linkage, recombination and mapping of genes on chromosomes
Interference and coincidence
Genetic map function: connecting recombination fractions and genetic map distances
6. Genetic Analysis and Mapping in Bacteria and Bacteriophages
Bacterial transformation
Bacterial conjugation: plasmids and episomes
Generalized and specialized transduction
Genetic recombination in bacteriophages. Fine structure of the gene: rII system of phage T4
7. Extranuclear Inheritance
Maternal effect
Maternal inheritance
General features of mitochondrial and chloroplast genomes
Heteroplasmy
Infectious heredity
8. Quantitative Genetics
Quantitative traits
Genes and environment
Phenotypic distribution and norms of reaction
Genetic basis of quantitative traits: Johannsen’s experiment
Polygenic inheritance: Nilsson-Ehle’s experiment
Heritability
9. Population Genetics
Mendelian population
Genetic variation
Allele and genotype frequencies
Random mating and Hardy-Weinberg equilibrium
Evolutionary forces: mutation, migration, random drift, and selection
10. The Nature of Genetic Material
Discovery of bacterial transformation
DNA as source of genetic information: Hershey & Chase’s experiment
RNA as genetic material in viruses
Structure and properties of nucleic acids
11. DNA Organization in Chromosomes
Genome size: the C-value paradox
Bacterial chromosomes
Eukaryote chromosomes
DNA packaging: Nucleosomes and Chromatin
Centromeres and Telomeres
Lampbrush and polytene chromosomes
Karyotype
12. DNA Mutation
Random and adaptive mutation
Mutant types
Spontaneous and induced mutation
Detecting mutagens: the Ames test
Euploidy and aneuploidy
Monoploidy
Polyploidy: Autopolyploidy and Allopolyploidy
Aneuploidy: meiotic nondisjunction, monosomy, trisomy
Somatic aneuploidy: mitotic nondisjunction, sexual mosaics
B chromosomes
Teaching labs
Lab 1. GENETIC ANALYSIS IN CORN (Zea mays): INTERACTION AND EPISTASIS.
Description of shape and colour of F2 seeds (kernel) obtained from different crosses
Hypothesis testing (chi-square)
Inference of genotype and phenotype of generations P and F1
Genetic and Biochemistry basis of the observed phenotypes
Lab 2. SETTING UP EXPERIMENTS USING Drosophila.
Raising and handling Drosophila in the lab
Life cycle
Analysing fruit flies: distinguishing sex, why isolating virgin females, observation of some mutant phenotypes
Lab 3. LINKAGE MAPPING IN D. melanogaster.
Reciprocal crosses between wild and three-factor mutant (yellow, white y miniature)
Analysis of Offspring (F1)
Testcrosses, analysis of offspring (F2) and statistical approach to determine the linkage order and map distances between the three loci on Drosophila chromosomes (calculation of frequencies of recombination, coincidence coefficient and interference)
Lab 4. POLYTENE CHROMOSOME OF THE SALIVARY GLANDS OF D. buzzatii.
Extraction of larval salivary glands
Staining with orcein
Identification of polytene chromosomes and the sex of larva
Chromosome puffing
Lab 5. COMPUTER LAB.
Introduction to bioinformatics databases and resources offered through the NCBI
Getting familiar with the following databases: PUBMED, BOOKS, TAXONOMY, OMIM.
Planning
Methodologies / tests
Competencies
Ordinary class hours
Student’s personal work hours
Total hours
Laboratory practice
A2 A4 A11 A12 A26 A30 A31 B1 B2 B3 B4 B5 B6
15
22.5
37.5
Mixed objective/subjective test
B1 B2 B3 B8 B9
2.5
0
2.5
Supervised projects
A1 A12 A26 A29 B1 B2 B3 B4 B5 B6 B8 B9
8
16
24
Guest lecture / keynote speech
A1 A11 A12 A20 A26 A29 B1 B2 B3
24
60
84
Personalized attention
2
0
2
(*)The information in the planning table is for guidance only and does not take into account the heterogeneity of the students.
Methodologies
Methodologies
Description
Laboratory practice
The teaching labs are designed to allow groups of students to work side by side in order to (i) better comprenhend certain issues of the syllabus and (ii) see “real” science as approachable, accessible and exciting.
Each lab relies on a theoretical basis (teacher explanation + reading assignment) and a hands-on activity.
Mixed objective/subjective test
The final exam is usually composed by a multiple choice/true-false set, short-answer questions, and a set of genetic problems.
Supervised projects
Group work: students will be assigned a maximum of four sets of genetic problems, whose written solutions have to be handed in for evaluation by certain deadlines. Additional group activities may be assigned for the sake of a better comprehension of particular issues.
Guest lecture / keynote speech
Master class and reading groups: the teacher will explain the main contents of each lesson and will assign texts for further reading. Working with small groups will allow the exchange of ideas among students, under direct supervision of the lecturer.
Personalized attention
Methodologies
Supervised projects
Description
All students are welcome to receive regular tuition in both theory and practical issues of the subject. Individual or group appointments may be arranged with the teacher.
Assessment
Methodologies
Competencies
Description
Qualification
Mixed objective/subjective test
B1 B2 B3 B8 B9
The final exam (test, short-answer, set of problems) aims at evaluating student's performance by (i) showing his/her understanding of theoretical concepts and (ii) developing problem-solving strategies.
Evaluation of this activity aims at checking the acquisition of the following competencies: A1, A11, A12, A20, A26, A29
60
Laboratory practice
A2 A4 A11 A12 A26 A30 A31 B1 B2 B3 B4 B5 B6
Laboratory attendance is mandatory. Pass mark of 50% in the corresponding lab test.
Evaluation of this activity aims at checking the acquisition of the following competencies: A1, A2, A4, A11, A12, A26, A29, A30, A31.
15
Supervised projects
A1 A12 A26 A29 B1 B2 B3 B4 B5 B6 B8 B9
Group work is not mandatory in order to pass the subject. Grading will reflect the students' comprehension of the topic, their analytical skills, as well as how well the assignment is written, presented and orthograpy.
Evaluation of this activity aims at checking the acquisition of the following competencies: A1, A2, A11, A12, A20, A26, A29
25
Assessment comments
To pass the subject, students must score at least 50% pass in Laboratory Practice as well as 50% in Mixed objective/subjective test.
Marks obtained in Laboratory Practice or Mixed objective/subjective test will be kept for the July examination session if scored at least 50% pass.
If the final score is 5.0 or higher, but the student failed either theory and/or labs (50% pass mandatory in both of them), the grade report will show the failed score (or the average if the student failed both).
The course will appear as "Not attended" only if the student did not attended/handed in any of the labs, examinations, and/or supervised projects.
Part-time students or students who participate in equality and diversity
support programs are welcome to participate in this subject. The
teachers will adapt the different compulsory activities in order to
enable these students to fulfill the aims of the course.
Sources of information
Basic
TEXTBOOKS.
Griffiths AJF et al. (2012) Introduction to genetic analysis. 10th edition. WH Freeman. ISBN: 9781429276344.
Klug WS et al. (2010) Essentials of genetics. 7th edition. Pearson Benjamin Cummings. ISBN: 9780321618696.
Pierce BA (2012) Genetics: a conceptual approach. 4th edition. WH Freeman. ISBN: 9781429276061.
Russell PJ (2010) iGenetics. A Molecular Approach. 3rd edition. Pearson International Edition. ISBN: 0-321-61022-9.
Complementary
FREE ONLINE
Griffiths AJF, Miller JH, Suzuki DT, et al. (2000) An Introduction to Genetic Analysis. 7th edition. New York: W. H. Freeman.
Available from: http://www.ncbi.nlm.nih.gov/books/NBK21766/
Recommendations
Subjects that it is recommended to have taken before
Statistics/610G02005
Biology: Basic Levels of Organisation of Life I (Cells)/610G02007
Biology: Basic Levels of Organisation of Life II (Tissues)/610G02008
Biochemistry I/610G02011
Subjects that are recommended to be taken simultaneously
Subjects that continue the syllabus
Molecular Genetics/610G02020
Population Genetics and Evolution/610G02021
Cytogenetics/610G02022
Other comments
Attending class regularly is one strategy to maintain satisfactory academic progress. Relying on Moodle notes is not enough to pass at the higher education level!
Asking questions in class if you do not understand the material presented.
The more you read, do homework, participate in class, the more familiar you will become with content, which is a strategy to help you pass.
You will also be expected to read other materials in addition to the textbook to give you differing viewpoints and to develop your critical thinking.
You are most welcome to set up meetings with your instructors to discuss any issue about the subject.
(*)The teaching guide is the document in which the URV publishes the information about all its courses. It is a public document and cannot be modified. Only in exceptional cases can it be revised by the competent agent or duly revised so that it is in line with current legislation.