Molecular Genetics and Cytogenetics

Code:

B260

Acronym:

B260

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2015/2016 - 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	177	Plano de estudos a partir de 2008	2	-	7,5	60	202,5
L:F	0	Plano de estudos a partir de 2008	2	-	7,5	60	202,5
			3
L:G	0	P.E - estudantes com 1ª matricula anterior a 09/10	3	-	7,5	60	202,5
		P.E - estudantes com 1ª matricula em 09/10	3	-	7,5	60	202,5
L:M	0	Plano de estudos a partir de 2009	3	-	7,5	60	202,5
L:Q	1	Plano de estudos Oficial	3	-	7,5	60	202,5

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;

- Cytomics and analysis of cytogenetic disturbances. Associated techniques;

- Regulation of gene expression in eukaryotes (promoters' regulation and by RNAi);

- Mechanisms leading to mutations in DNA, the consequences of mutations and repair mechanisms;

- Organization of the genome of eukaryotic organisms;

- Methods for analysis of genetic diversity;

- Genetic diversity and relationship to phylogeny and phylogeography.

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.

- Cytogenetics and Cytomics:
Principles and techniques of cytomics in the analysis of cytogenetic processes and disorders, namely in cell division and cell death. Fundaments and applications of Image Cytometry and Flow Cytometry. Examples of techniques to analyse cytogenetic disturbances, genotoxicidade, etc (changes in ploidy-DNA, cell cycle dynamics, comets, CBMN, mitotic catastrophe). Case studies.

- Biochemical and Molecular Genetics:
Inborn errors of metabolism; Hypothesis a gene - one enzyme. Metabolic chains: epi and hypostasis. Colinearity between gene and protein. Transcriptional regulation. Regulation of mRNA levels by RNA interference. Gene mutation and repair mechanisms. 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. Comets. FCM Histo/Cytogram analysis. 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

BioEdit; Mega
GenAlex

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

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 average of the marks obtained in the two frequencies. Those who choose the mode frequencies can not perform the examination of the normal season. Students who have failed the set of frequencies may take the examination at the time of appeal. In any evaluation test (frequency or examination) is required at least thirty percent in each of the test pieces (theoretical and practical).

Classification improvement

Final exam