Download GENETICS Anno accademico 2016/17 CdS BIOLOGICAL

Sistema centralizzato di iscrizione agli esami
Programma
GENETICS
STEFANO LANDI
Anno accademico
CdS
Codice
CFU
Moduli
GENETICA
Settore
BIO/18
2016/17
BIOLOGICAL SCIENCES
082EE
9
Tipo
LEZIONI
Ore
80
Docente/i
FEDERICA GEMIGNANI
STEFANO LANDI
Learning outcomes
Knowledge
The student who successfully completes the course will have the ability to define the inheritance of mendelian traits and sex inheritance.
Moreover he or she will be able to demonstrate a solid knowledge of molecular basis of genetic variation, allele and gene interactions,
eukaryotic chromosome mapping, gene and chromosome mutations and their phenotypic effects, population genetics; lastly he or she will be
aware of basic methods of gene and chromosome mutation analysis.
Assessment criteria of knowledge
In the written exam the student must demonstrate the ability to put into practice and to execute with critical awareness the activities illustrated or
carried out under the guidance of the teacher during the course. - With the oral presentation must be able to demonstrate his/her knowledge of
the course material and be able to discuss the reading matter thoughtfully and with propriety of expression.
Methods:
Final oral exam (optional)
Final written exam+Laboratory report
Skills
The student acquires the ability to solve problems Mendelian genetics, the associated genes, and how to map genes in genetically genomes
Assessment criteria of skills
The verification of acquired skills is through the test examination with exercises and open questions
Behaviors
The student will acquire the appropriate mindset to analyze pedigrees and design of simple Mendelian genetics studies
Assessment criteria of behaviors
learned behaviors occur through examination
Prerequisites
No specific upfront knowledge
Co-requisites
Have some basics of biochemistry could be of help
Prerequisites for further study
The student will be able to understand the content of the most advanced courses in genetics foreseen in the master degree
Teaching methods
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Sistema centralizzato di iscrizione agli esami
Programma
Delivery: face to face
Learning activities:
attending lectures
preparation of oral/written report
individual study
Laboratory work
Practical
Attendance: Advised
Teaching methods:
Lectures
Task-based learning/problem-based learning/inquiry-based learning
laboratory
Syllabus
Topic
Introduction to the course.
DNA and 'the vector that carries the genetic information. The Griffiths experiments, Avery, Mc Leod, McCarty, Hershy-Chase. The DNA
chemistry. The rule of Chargaff.
The replication of DNA.
DNA polymerases: types, throughput ', activity' exonuclease. Pairings incorrect by the tautomeric forms. The attivita 'proof-reading. Organization
of eukaryotic DNA into nucleosomes, chromatin fiber, chromosomes.
An overall look at the human genome. Differences between nuclear and mitochondrial genome. Mitosis. Phases G1, S, G2, M
Interphase. Interphase and metaphase chromosome. cell division (Video).
The phases of mitosis.
The stages of mitosis and meiosis phases. Prophase of meiosis I. The complex sinaptonemale. Cycle diploid / haploid organisms.
Introducing Johann Gregor Mendel.
Molecular representation of meiosis. Give a name to each of the elements of the homologous chromosomes. The first law of Mendel. Definition:
pure line, parental, hybrid, monohybrid, monohybrid cross, allele, dominant allele, "wild-type allele," "mutant allele", recessive allele,
heterozygous, homozygous, homozygous dominant, homozygous recessive, zygote, genotype, phenotype , gene locus, haploinsufficiency,
aplosufficienza.
See meiosis: Ascomycetes and ascospores. Life cycle.
Bases of dominance: aplosufficienza enzyme.
One complication to Mendel's laws: inherits' linked to sex. sex determination in mammals and insects. affection male x female crossing wildtype; Crossing affected female x male wild-type, it was the F1 and F2. Analysis of family trees. Analysis examples of family trees to autosomal
recessive traits. Autosomal recessive traits: phenylketonuria, albinism, cystic fibrosis.
family trees to autosomal dominant characters. Achondroplastic dwarfism, Marfan's syndrome, Huntington's chorea, Esadattilia, Brachydactyly
piebaldism. Molecular analysis for identification of mutations (Southern Blot, Northern Blot, Western Blot).
Characters the X-linked recessive. Examples related to color blindness, Duchenne muscular dystrophy and hemophilia (factor VIII). Other
examples: testicular feminization syndrome. X-linked dominant characters. Possible examples: X-linked vitamin D-resistant hypo-phosphatemia,
Rett syndrome, Aicardi Syndrome. The inactivation of the X chromosome (Lyonizzazione of cromoxoma X). X inactivation examples: cats
caliche, tortoiseshell cats, ectodermal dysplasia anhidrotic.
Exercises on family trees and assignment of probabilities 'in cases of inheritance' simple Mendelian concerning a single gene.
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Sistema centralizzato di iscrizione agli esami
Programma
simple Mendelian genetics exercises
The second law of Mendel. Using the Punnett Square or the calculation of the probabilities' to predict the F2 progeny of crosses
of-hybrids. Segregation phenotypic 9: 3: 3: 1.
simple Mendelian genetics exercises with two independent loci. observed frequencies, expected frequencies and Chi-Square test. Synthesis of
pure lines for autoincrocio in "n" generations. pure lines as opposed to "hybrid virescenti".
The chromosomal bases assortment independent. Examples of application of the test of Chi-Square and independent segregation of two loci.
Inherits' extranuclear. Heteroplasmy.
Pathologies related to mitochondrial DNA.
Characters penetrance and / or expressivity 'variable.
Mendelian genetics exercises two independent characters.
Mendelian genetics exercises one and two independent characters, and X-linked.
Gene interactions.
Interactions between alleles of a single locus (allelic series). Mechanisms of complete dominance (aplosufficienza or negative
dominance). Example of imperfect osteogenei. Incomplete dominance. Codominance. Example of the ABO blood group system.
Problems related to genetics of blood groups. Exclusion of paternity 'by analysis of blood groups. related exercises. Example of sickle cell
hemoglobin: complete dominance, co-dominance, incomplete dominance depending on the analyzed phenotype.
Interactions between allelic series in single locus, as Clover. lethal alleles. Examples of the rat "yellow", the dwarfism achondroplastic and the
Isle of Man cat. segregation ratios 2: 1 which are observed in these cases.
QTL (quantitative traits): simple models. allelic series of one locus (eg erythrocyte acid phosphatase). Template to multiple genes, three loci, the
two alleles each.
General principles of heredity 'polygenic.
A gene, an enzyme: the metabolic chains. The Beadle-Tatum experiments. Interaction of loci for belonging to the same metabolic
chains. Neurospora crassa mutants auxotrophic for arginine. One locus or more 'loci? Complementation tests.
Interactions between different loci converging on the same phenotype. metabolic chains and interaction between loci: the example of the
absence of maleilacetacetico acid in homozygous mutants for albinism, cretinism, phenylketonuria, and tirosinosi alkaptonuria.
Examples of interaction: the pigment color on the petals of campanula. Segregation 9: 7. Recessive epistasis.
Examples of recessive epistasis. white petals, magenta, blue. Manto black, brown, yellow Labrador. dominant epistasis. Petals Digitalis
purpurea. Color of the eyes in humans.
Suppression and mutant alleles.
Exercises related to gene interactions
Introduction to bacterial genetics. The transformation. The bacterial conjugation. The F factor of fertility '. The Hfr strains. conjugation
experiments interrupted to define the order (in minutes) of the genes on the chromosome of E. coli.
Different Hfr strains and ordering of genes on the bacterial chromosome. Use of conjugation to measure recombination frequencies between
contiguous genes on chromosome prokaryotic. The plasmids F '. Bacterial partial diploid. mechanisms of formation of F
'plasmids. Recombination between different phage strains. Brenner notes on experiments (intragenic recombination phage and discovery of the
"triplets" code). The generalized and specialized transduction. Zygotic induction. Genome training phage lambda-delta.
Exercises related to the bacterial and phage genetics
Difference in segregation (to F2) of two loci when they are independent or when they are "in linkage" (associated). Chi-square test to indicate
association or independence. Use of the test-cross to unveil individuals originated from gametes with "parental" combinations or
"recombinant". Gametic phase. Alleles in "cis" and alleles in "trans." Chiasmus and crossing-over. Definition of units' genetic map.
The lesson will not take place for early academic holidays
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Sistema centralizzato di iscrizione agli esami
Programma
The heteroduplex DNA.
Exercises on the phage and bacterial genetics.
Unita 'genetic map: centiMorgan, or percentage of recombination. Relationship between genetic distance and physical distance in the human
genome. Calculation of the genetic map distance between two loci. Exercises on mapping two loci. Predicting expected progeny by crossing two
diibridi with remote loci map of 30cm.
Mapping of the eukaryotic chromosome by recombination mapping to two linked loci, exercises.
The crossing three points (three loci concatenated). Establish order and distance of genetic maps of loci in linkage.
Exercises on crossing three points. Calculation of coincidence and interference ratio.
Elements of population genetics. The concept of Gene Pool and the law of Hardy-Weinberg. Exercises.
The relationship between genotype and phenotype. 1- prokaryotic gene regulation. The prime example: the lac operon (lactose). Exercises on
partial diploid.
2- The eurariota gene regulation. The galactose regulon. Transcription factors. The laxity 'chromatin regulation. Chromatin remodeling. The
position effect. red eye variegation of drosophila to position effect. Silencing gene chromatin. heterochromatin spreading. Gender-specific
imprinting.
3- Anatomy of a eukaryotic gene. The relevant sequences for genes coding for proteins. Definition of mutation and genetic
polymorphism. Mutation and deleterious mutation. Mutations in the regulatory regions of the enhancer, promoter, 5'UTR, CDS (coding
sequence), 3'UTR.
The effects of genetic and chromosomal mutations. Aneuploidy.
Bibliography
Recommended reading includes the following work: Griffiths A., J Miller, D Suzuki, R. Lewontin, W Gelbart: GENETICA principi di analisi
formale. Zanichelli 2006. Further bibliography: Hartl D. Jones E. GENETICA Analisi dei geni e dei genomi EdiSES 2010 Russell P. Genetica un
approccio molecolare Pearson 2010
Non-attending students info
See
www.stefanolandi.eu
Assessment methods
The exam is written + a laboratory report
The oral is upon demand (it will change the score only for + or - 1 point)
Work placement
Only laboratories (1 credit) is foreseen. No stages.
Class web page
http://www.stefanolandi.eu
Additional web pages
E-learning
Moodle
Updated: 30/03/2017 17:24
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