Identifying Data 2023/24
Subject (*) Human Genetics Code 610441017s
Study programme
Máster Universitario en Bioloxía Molecular, Celular e Xenética (semipresencial)
Descriptors Cycle Period Year Type Credits
Official Master's Degree 2nd four-month period
First Optional 3
Language
Spanish
Teaching method Hybrid
Prerequisites
Department Bioloxía
Coordinador
Gonzalez Tizon, Ana Maria
E-mail
ana.gonzalez.tizon@udc.es
Lecturers
Gonzalez Tizon, Ana Maria
Martinez Lage, Andres
E-mail
ana.gonzalez.tizon@udc.es
andres.martinez@udc.es
Web
General description Esta materia estuda a organización, estructura e función do xenoma human, profundizando no coñecemento das enfermidades xenéticas, na identificación xenética de individuos, e na evolución das poboacións. Aborda, tamén, as técnicas actuais de análise xenético para o estudo, aillamento e cartografíado de xenes, e diagnóstico molecular.

Study programme competencies
Code Study programme competences
A1 Skills of working in a sure way in the laboratories knowing operation handbooks and actions to avoid incidents of risk.
A6 Skills of understanding the functioning of cells through the structural organization, biochemistry, gene expression and genetic variability.
A8 Skills of having an integrated view of the previously acquired knowledge about Molecular and Cellular Biology and Genetics, with an interdisciplinary approach and experimental work.
A11 Skills of understanding the structure, dynamics and evolution of genomes and to apply tools necessary to his study.
A12 Skills to understand, detect and analyze the genetic variation, knowing genotoxicity processes and methodologies for its evaluation, as well as carrying out diagnosis and genetic risk studies.
B1 Analysis skills to understand biological problems in connection with the Molecular and Cellular Biology and Genetics.
B3 Skills of management of the information: that are able to gather and to understand relevant information and results, obtaining conclusions and to prepare reasoned reports on scientific and biotechnological questions
B5 Ability to draft, represent, analyze, interpret and present technical documentation and relevant data in the field of the branch of knowledge of the master's degree in the native language and at least in another International diffusion language.
B6 Skills of team work: that are able to keep efficient interpersonal relationships in an interdisciplinary and international work context, with respect for the cultural diversity.
B8 Critical reasoning skills and ethical commitment with the society: sensitivity in front of bioethical problems and to the ones related to the natural resource conservation
C2 Ability to know and use appropriately the technical terminology of the field of knowledge of the master, in the native language and in English, as a language of international diffusion in this field
C9 Ability to manage times and resources: developing plans, prioritizing activities, identifying critical points, establishing goals and accomplishing them.

Learning aims
Learning outcomes Study programme competences
Capacidade de realizar análise xenéticos tanto a nivel molecular como na identificación de enfermedades xenéticas mediante estudos familiares. Capacidade de realizar diagnóstico xenético. AR1
AR6
AR8
AR11
AR12
BR1
BR3
BR5
BR6
BR8
CC2
CC9

Contents
Topic Sub-topic
TEMA 1. O XENOMA HUMANO: secuencia e variación. Elementos funcionais
Xenes que codifican para proteínas
Xenes que codifican para RNAs
Elementos repetitivos
Xenoma mitocondrial
Variabilidade xenética
Epixenética
TEMA 2. CROMOSOMAS E ALTERACIONS CROMOSÓMICAS Cariotipo humano
Alteracions mitóticas e meióticas: non disyunción.
Alteracions cromosómicas numéricas e estructurais.
Mosaicismo
Enfermedades producidas por alteracions cromosómicas
TEMA 3. XENES e CÁNCER. Oncoxenes e xenes supresores de tumores.
Xenética de cánceres comunes.
Cánceres familiares.
Tema 4. XENÉTICA FORENSE Identificación xenética de individuos.
Pegada xenética.
TEMA 5. EVOLUCIÓN DAS POBOACIÓNS HUMANAS Diversidade xenética humana
Variacions poboacionais
Herdanza mitocondrial
Herdanza nuclear
TEMA 6. ENFERMIDADES Herdanza mendeliana.
Factores que complican os patrons de herencia.
Polixenes e variacións no fenotipo.
Heredabilidade.
TEMARIO DE PRÁCTICAS DE LABORATORIO 1-Análise de haplotipos mitocondriais
2-Filoxenias humanas.

Planning
Methodologies / tests Competencies Ordinary class hours Student’s personal work hours Total hours
Mixed objective/subjective test A1 A6 A11 B1 B3 B6 B8 0 2 2
Practical test: A1 A11 B1 B5 B6 B8 0 3 3
ICT practicals A8 A12 B5 B8 C2 C9 4 6 10
Workbook A8 A11 A12 B1 B3 B5 1 14 15
Guest lecture / keynote speech A6 A8 A11 A12 0 41 41
 
Personalized attention 4 0 4
 
(*)The information in the planning table is for guidance only and does not take into account the heterogeneity of the students.

Methodologies
Methodologies Description
Mixed objective/subjective test Proba escrita na que se evaluará cualquier aspecto relacionado coas clases expositivas da materia.
Practical test: Os estudantes realizarán exercicios similares os que fixeron durante as prácticas TIC
ICT practicals As prácticas presenciais obligatorias de laboratorio serán sustituídas por prácticas virtuales que serán presenciais via telemática.
Workbook Os estudantes deberán leer, alo menos dous artígos científicos propostos polo profesor e presentar un resumen de cada uno de eles en formato pdf.
Guest lecture / keynote speech Engadirache as presentacios da materia, artigos científicos e links a páxinas web. Durante as 4 horas de tutorias presenciais os estudantes consultarán as dúbidas que teñan.

Personalized attention
Methodologies
ICT practicals
Guest lecture / keynote speech
Description

Os alumnos deberán manter catro horas de tutorías presenciais co profesor para resolución de dúbidas vía TEAMS. Ademais poderase solicitar outras tutorias ou ben consulta de dúbidas via correo electrónico ou chat implementado en TEAMS en horario a convir por ambas partes.

Assessment
Methodologies Competencies Description Qualification
ICT practicals A8 A12 B5 B8 C2 C9 Se valorará el conocimiento sobre el significado de las tareas realizadas, y la interpretación de los resultados obtenidos. 15
Workbook A8 A11 A12 B1 B3 B5 Los alumnos realizarán un resumen de 2-3 páginas que deberán entregar en formato pdf a los profesores, tras la lectura de dos artículos de investigación. Se valorará la expresión escrita, la claridad y concisión, y la capacidad de discusión. 30
Practical test: A1 A11 B1 B5 B6 B8 rueba escrita en la que se valorarán los conocimientos adquiridos durante las prácticas a través de TICs 15
Mixed objective/subjective test A1 A6 A11 B1 B3 B6 B8 Se valorará el dominio de conceptos teóricos, claridad en las explicaciones, capacidad de relacionar e integrar la información recibida tratada en las sesiones magistrales y en las prácticas a través de TICs, y capacidad de resolver cuestiones y problemas. 40
 
Assessment comments

Las prácticas a través de TICs son obligatorias.

Para aprobar la
materia el alumno debe obtene al menos un 50% de la puntuación asignada a
la prueba mixta y otro 50% de la de las prácticas.

Se
considerará NO PRESENTADO cuando el alumno no haya participado en más
de un 20% de las actividades evaluables programadas. Este criterio se
aplica a la convocatoria de junio. En la convocatoria de julio, para
obtener la calificación NO PRESENTADO, bastará con no presentarse a las
pruebas objetivas (exámenes de teoría y prácticas). 

Para la
evaluación de la convocatoria de julio, el alumno, además de los
exámenes de teoría y prácticas, deberá presentar  los resúmenes de las
lecturas. En el caso de que esta  actividad estuviese ya
evaluada en la convocatoria anterior, la calificación obtenida se
mantendrá para julio.


Sources of information
Basic
El alumnado tendrá acceso, a través de la plataforma Moodle, a una webgrafía necesaria y suficiente para superar con éxito la asignatura.

Esta webgrafía estará disponible a principios de curso de la materia.

Complementary


Recommendations
Subjects that it is recommended to have taken before
Immunology/610441009
Genetic Variation Mechanisms/610441005

Subjects that are recommended to be taken simultaneously
Cellular Techniques/610441001

Subjects that continue the syllabus

Other comments

Attendance at lectures makes it possible to deal with any doubts or questions that may arise in the course of the explanations, facilitating the understanding of the subjects. Study should include regular reading of at least the recommended bibliography. Group study and work favours understanding and develops a critical spirit. The doubts and difficulties that arise in any aspect of the subject will be resolved as soon as possible, raising them in the classroom or attending individual tutorials. Given that part of the recommended bibliography for this subject is in English, it is recommended to have a good command of this language, at least at the level of comprehension of written texts.

Gender Perspective

In this subject, the gender perspective will be taken into account, sexist attitudes will not be tolerated and the values of respect and equality will be promoted.


Program Green Campus Empower of Sciences

To help to achieve some sustainable immediate surroundings and fulfil with the point 6 of the Environmental Statement of the faculty of Sciences (2020), the documentary works that realise in this matter:

a. They will request  mostly in virtual format and computer support

b. To realise in paper:

-they will not employ plastic

-will realise impressions to double expensive

-will employ paper recycled

-will avoid the realisation of drafts

To Environmental Statement is available in:

https://ciencias.udc.es/images/Facultade/Green_Campus/Regulamento_Comit%C3%A9_Green_Campus_FCiencias.pdf



(*)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.