Molecular Genetics and Cytogenetics

Code:

BIOL2014

Acronym:

BIOL2014

Level:

200

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2021/2022 - 2S

Active?	Yes
Responsible unit:	Department of Biology
Course/CS Responsible:	Bachelor in Biology

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
L:B	193	Official Study Plan	2	-	6	48	162

Teaching language

Suitable for English-speaking students

Objectives

Enable students to basic concepts and methodologies of analysis on Cytogenetics and Molecular Genetics. The conceptual framework and tools acquired will be useful in the areas of teaching, research or other aspects of more applied areas.

Learning outcomes and competences

Acquisition of knowledge on:

- Constitution of chromosomes and construction of karyograms;

- Abnormalities in the number and structure of chromosomes and their implications / consequences in the carrier and at the gametic level;

- Mechanisms leading to mutations in DNA and the consequences of those mutations;

- Organization of the genomes of eukaryotic organisms;

- Methods for analysis of genetic diversity;

- Genetic diversity and relationship to phylogeny and phylogeography.

- Genomics.

Working method

Presencial

Program

Theory:

- Cytogenetics:
Chromosome theory of heredity. Chromatin and chromosome (prokaryotic and eukaryotic); classification. Chromosome mutations: numerical and structural. Organization and chromosomal evolution.

- Biochemical and Molecular Genetics:
Inborn errors of metabolism; Hypothesis a gene - one enzyme. Metabolic chains: epi and hypostasis. Colinearity between gene and protein. DNA mutations and its consequences. Eukaryote genome organization.
Molecular markers: types, characteristics and applications. Applications of molecular genetic techniques: Diagnosis, evolution and conservation.

Practical:
Karyotype. Anomalies of number and structure of chromosomes; meiotic configurations.  Electrophoresis. PCR. Principles type polymorphisms SNPs and STRs; examples and applications. Design of primers, sequence alignments. Use of computer programs: Primer 3; BioEdit, Clustal Omega and MEGA.

Mandatory literature

Griffiths Anthony J. F.; Introduction to genetic analysis. ISBN: 978-0-7167-6887-6
Lewin Benjamin; Genes IX. ISBN: 978-0-7637-4063-4
Hartl Daniel L.; Genetics. ISBN: 9780763715113
Lodish Harvey F. 070; Molecular cell biology. ISBN: 978-0-7167-3136-8
Jobling Mark A.; Human evolutionary genetics. ISBN: 978-0-8153-4185-7 0-8153-4185-7
Strachan Tom; Human molecular genetics 3. ISBN: 978-0-8153-4184-0 0-8153-4184-9
Pevsner Jonathan 1961-; Bioinformatics and functional genomics. ISBN: 9780470085851 pbk

Teaching methods and learning activities

Theoretical analysis using visual aids. Performing work and practical exercises. Use of computers for data analysis and primer design.

Software

GenAlex
BioEdit; Mega

keywords

Natural sciences > Biological sciences > Biology > Genetics

Evaluation Type

Distributed evaluation with final exam

Assessment Components

designation	Weight (%)
Exame	100,00
Total:	100,00

Amount of time allocated to each course unit

designation	Time (hours)
Frequência das aulas	25,00
Total:	25,00

Eligibility for exams

The students should atend 2/3 of pratical classes.

Calculation formula of final grade

Theory 12 values; Practice 8 values. The evaluation will consist in the realization of a final exam or two mid tests (frequencies). The first frequency will be held in the middle of the semester, during the time of a theoretical lecture and the second will be held on the date of the examination of the normal season of exams.

The final grade will correspond to the sum of the classifications obtained in the two frequencies. Those who choose the mode frequencies can not do the exam of the normal season. Students who have failed the set of frequencies may take the exam at the time of appeal (recurso). In any evaluation test (frequency or exam) is required at least thirty percent in each of the test pieces (theoretical and practical).

Classification improvement

Final exam