Teachings

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Professor
ANNALISA MARCHI (Tit.)
Period
Second Semester 
Teaching style
Convenzionale 
Lingua Insegnamento
ITALIANO 



Informazioni aggiuntive

Course Curriculum CFU Length(h)
[60/56]  INDUSTRIAL BIOTECHNOLOGY [60/56-00 - Ord. 2014]  PERCORSO COMUNE 8 76

Objectives

Knowledge and understanding of hereditary transmission, genetic ricombination, relationships between genotype and phenotype, regulation of gene expression, and the molecular bases of genetic variation and evolution.
General knowledge of the methodologies employed in genetic analysis. Ability a) to determine the mode of inheritance of traits in pedigrees and experimetal crosses, b) to estimate transmission probability to the offspring, and 3) to asses genetic linkage among genes. Use of statistical tests to verify the significance of experimental data. Genetic analysis at the population level. Acquisition of basic methodologies for the analysis of DNA and its polymorphisms.
Development of critical abilities in analizing experimental data, capacity to propose and test hypotheses. Autonomy in understanding and performing experimental protocols. Ability to work in a team. Acquisition of scientific language and communication skills.

Prerequisites

Basic knowledge of cell structure and physiology, cell division (mitosis and meiosis), and of DNA structure and functions.

Contents

The molecular basis of heredity: DNA as genetic material. Correlation between DNA structure and function. Genome organization in eukaryotes.
Mendelian Genetics: genotype and phenotype. Methods of Mendelian analysis. Segregation and independent assortment of genes. Backcross. Correlation between Mendelian laws and meiosis. Probabilistic estimates and chi-square test in genetic analysis. Sex-linked inheritance. Pedigree analysis. Multiple alleles. Modified Mendelian ratios: incomplete dominance and codominance; lethal genes, genetic interactions. Penetrance and expressivity. Environmental effects on phenotypic expression. Polygenic traits inheritance. Linkage, recombination and gene mapping in eukaryotes. Discovery of gene linkage. Recombination and crossing over. Linkage maps based on recombination frequency. Two and three point crosses. Double crossover and interference. Molecular markers.Linkage analysis in man. The Human Genome Project.
Mutations. Point mutations: phenotipic effects. Dynamic mutations. The karyotype: characteristics and methods of study. Euchromatin and heterochromatin.Mutations of chromosome structure: deficiencies and duplications, inversions, translocations. Mutations of chromosome number: poliploidy and aneuploidy . X inactivation in mammals.
Transposable elements. Transposable elements in bacteria: IS and transposon sequences. Transposable elements in eukaryotes. Genetic consequences of transposition.
Extranuclear inheritance. Transmission mode. Mitochondrial and chloroplastic genomes. Examples of extranuclear inheritance. Maternal inheritance and maternal effect.
Population genetics. Analysis of the genetic structure of populations: allelic and genotypic frequencies. Estimation of genetic variability. The Hardy-Weinberg law for autosomal and X-linked loci and its application. Factors affecting genetic variation: mutation, migration, genetic drift, natural selection.
Laboratory:
DNA extraction by salting out.
DNA restriction analysis.
Polymorphisms related to lactase persistence.
Use of VNTR in forensic genetics.
Identification of GMO in food.
Genotyping using ITS PCR ribotypes.

Teaching Methods

Lectures, practice on problem solving, written tests , laboratory practice on DNA and genetic polymorphism analysis.
Language: Italian

Verification of learning

The assessment is based on two problem solving tests with open-answer during the course, and an oral interview at the end of the course on issues not included in the tests. In case of failure on one or more tests, the relative issues will be included in the oral examination.
The final judgement will be based on:
a) Capacity of expression;
b) Use of scientific terminology relevant to the course;
c) Understanding of the topics covered in the course;
d) Ability to connect the concepts and situate them within a logical framework;
e) Ability to use theoretical information to analyze and interpret experimental data.
Final grade:
a) Sufficient (18 to 20/30)
The applicant demonstrates modest ability of expression, but still sufficient to support a coherent dialogue. Few concepts acquired, superficial level, many gaps, and ekementary level of conceptual links. Poor ability to use the acquired knowledge in the analysis of experimental results;
b) Satisfactory (21 to 23)
The applicant demonstrates ability of expression more than sufficient to support a coherent dialogue. Acceptable mastery of the scientific language. Fair acquisition of knowledge but lack of depth, a few gaps, and conceptual links of moderate complexity. Fair ability to use the acquired knowledge in the analysis of experimental results;
c) Good (24 to 26)
The applicant demonstrates satisfactory skills with significant mastery of the scientific language. Rather large notions of moderate depth, with small gaps. Ddialogical and critical capacity well detectable. Good ability to use the acquired knowledge in the analysis of experimental results;
d) Outstanding (27 to 29)
The applicant demonstrates considerable expressive capabilities and high mastery of the scientific language. Very extensive notions, good depth, with marginal gaps. Remarkable dialogical capacity, good competence and relevant aptitude for logic synthesis. Remarkable ability to use the acquired knowledge in the analysis of experimental results;
e) Excellent (30)
The applicant demonstrates high capacity and high mastery of the scientific language. Very extensive and in-depth notions, gaps irrelevant. Excellent dialogical aptitude to make connections between different subjects. Excellent ability to use the acquired knowledge in the analysis of experimental results
The honor is attributed to candidates clearly above average.

Texts

Russel P.J. 2014. Genetica. Un approccio molecolare., Pearson
Sanders M.F. e Bowman J.L., 2013. Genetica. Un approccio integrato. PearsonGriffiths A,J.F. et al., 2013. Genetica. Principi di analisi formale. Zanichelli
Brooker R.J. 2010. Principi di Genetica. Mc Grow Hill
Hartl D.L. e Jones E. 2010. Analisi di geni e genomi. EdiSes
Hartwell L.H. et al., 2008. Genetica. Dai geni ai genomi. McGraw-Hill
Klug e Cummings, 2007. Concetti di Genetica. Pearson Prentice Hall.
Russel P.J., 2007. iGenetica . EdiSES

More Information

Pdf files of the class lectures and genetic problems. Genetics textbooks are availabe at the Central Library Area Biomedica, Cittadella Universitaria di Monserrato and the Consorzio Uno Library, Oristano.

Questionnaire and social

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