Biology and Genetics (2 year)
A.Y. 2023/2024
Learning objectives
Lessons and laboratory practice aim at providing students with logical and methodological concepts and tools to understand:
a) the description of cells and organisms as complex adaptive systems produced by the mechanisms of evolution;
b) the nature of the processes of cell division and gametogenesis in humans;
c) structure-function relationship and molecular recognition as the basis of action of informational molecules and of expression of genetic information in cells;
d) the interrelation between continuity and variability of genetic information in living organisms;
e) the modalities of transmission of inherited traits and the mechanisms that can give rise to normal and pathological phenotypic variants in humans;
f) molecular and genetic analysis methods - in particular pre- and postnatal genetic tests - and their use in medical practice.
a) the description of cells and organisms as complex adaptive systems produced by the mechanisms of evolution;
b) the nature of the processes of cell division and gametogenesis in humans;
c) structure-function relationship and molecular recognition as the basis of action of informational molecules and of expression of genetic information in cells;
d) the interrelation between continuity and variability of genetic information in living organisms;
e) the modalities of transmission of inherited traits and the mechanisms that can give rise to normal and pathological phenotypic variants in humans;
f) molecular and genetic analysis methods - in particular pre- and postnatal genetic tests - and their use in medical practice.
Expected learning outcomes
Students who have attended classes/labs are expected:
a) to be able to put the foundations of scientific reasoning into practice when expounding concepts and results of biomedical research, and to handle the relevant bibliographic and bioinformatics search tools;
b) to grasp the fundamental molecular and cellular mechanisms underlying genetic and epigenetic control of cells and organisms;
c) to master the facts of male and female gametogenesis, highlighting biological and genetic differences and effects;
d) to master the facts underlying the transmission of inherited traits and the mechanisms that regulate normal and pathological phenotypic variation in humans;
e) to be acquainted with the applications of biomolecular and genetic investigation methods to medical practice, critically illustrating their implementation in basic biomedical research, diagnostics and clinics
a) to be able to put the foundations of scientific reasoning into practice when expounding concepts and results of biomedical research, and to handle the relevant bibliographic and bioinformatics search tools;
b) to grasp the fundamental molecular and cellular mechanisms underlying genetic and epigenetic control of cells and organisms;
c) to master the facts of male and female gametogenesis, highlighting biological and genetic differences and effects;
d) to master the facts underlying the transmission of inherited traits and the mechanisms that regulate normal and pathological phenotypic variation in humans;
e) to be acquainted with the applications of biomolecular and genetic investigation methods to medical practice, critically illustrating their implementation in basic biomedical research, diagnostics and clinics
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.
Course syllabus and organization
Single session
Responsible
Prerequisites for admission
None
Assessment methods and Criteria
The assessment of learning takes place through the final exam, which verifies the acquisition of the knowledge and skills expected for the courses of Biology and Genetics through a written test lasting 120 minutes and an oral test. The written test is based on quizzes with multiple choice answers distributed among the two modules (30 biology and 30 genetics quizzes). The written exam is considered passed if the student has acquired a minimum score of 18/30 in each module. With the written test passed, the student is evaluated with the oral examination.
The final exam is considered passed if the student has acquired a minimum score of 18/30 in each module.
The final exam is considered passed if the student has acquired a minimum score of 18/30 in each module.
Experimental biology
Course syllabus
· Cell divisions: mitosis and meiosis, biological differences and purposes.
· The meiotic division as a source of genetic variability. Female and male gametogenesis.
· Genes in populations:
- the Hardy-Weinberg law
- calculation of allelic and genotypic frequencies for two-alleles systems
- calculation of allelic and genotypic frequencies for sex-related characters
- the disturbance factors to the Hardy-Weinberg equilibrium
· The meiotic division as a source of genetic variability. Female and male gametogenesis.
· Genes in populations:
- the Hardy-Weinberg law
- calculation of allelic and genotypic frequencies for two-alleles systems
- calculation of allelic and genotypic frequencies for sex-related characters
- the disturbance factors to the Hardy-Weinberg equilibrium
Teaching methods
Each credit includes hours of frontal and innovative teaching. The innovative teaching activities consist in the deepening of specific topics of the course syllabus, that will be selected by the students and the teacher. Such activity will be carried out in active collaboration between students and teacher.
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Teaching Resources
SUGGESTED TEXTBOOKS
B. ALBERTS, K. HOPKIN, A. JOHNSON et al.,
L'essenziale di Biologia Molecolare della cellula - 5a Edizione italiana, Zanichelli 2020
OR
G. KARP
Biologia Cellulare e Molecolare - 5a Edizione italiana, Edises 2015
FURTHER READING
H. LODISH, A. BERCK, C.A. KAISER et al.,
Molecular Cell Biology - 9th Edition, MacMillan 2021
B. ALBERTS, A. JOHNOSON, J. LEWIS et al.,
Molecular Biology of the Cell - 6th Edition, Garland Science 2014
WWW SITES
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books
http://www.nature.com/scitable
http://www.dnaftb.org/dnaftb
B. ALBERTS, K. HOPKIN, A. JOHNSON et al.,
L'essenziale di Biologia Molecolare della cellula - 5a Edizione italiana, Zanichelli 2020
OR
G. KARP
Biologia Cellulare e Molecolare - 5a Edizione italiana, Edises 2015
FURTHER READING
H. LODISH, A. BERCK, C.A. KAISER et al.,
Molecular Cell Biology - 9th Edition, MacMillan 2021
B. ALBERTS, A. JOHNOSON, J. LEWIS et al.,
Molecular Biology of the Cell - 6th Edition, Garland Science 2014
WWW SITES
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books
http://www.nature.com/scitable
http://www.dnaftb.org/dnaftb
Medical genetics
Course syllabus
· The organization of the human genome: from chromatin to chromosomes.
· Mendel and his experimental method:
- Mendel's first law, the segregation of alleles
- monohybrids and test cross
- Mendel's second law, the independent assortment
- hybrids and polyhybrids
- genotypic and phenotypic relationships in mendelian crosses: examples and applications
· Interaction between alleles and phenotypic effect: complete and incomplete dominance, codominance. Interactions between different genes. Pleiotropism. Multiple allele systems in humans: blood groups
· Independent and associated genes. Test cross and association test. Genetic maps.
· Chromosome theory of inheritance:
- human chromosomes as a vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities in number and structure and clinical implications, pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· X chromosome inactivation, relevance of the phenomenon in X-linked genetic diseases.
· Diversity of the human genome: DNA polymorphisms (RFLP, VNTR, STR, SNP, CNV) and haplotype transmission. DNA polymorphisms in forensic genetics. The concepts of pharmacogenetics and nutrigenetics.
· Genetic imprinting and uniparental disomy. Pathogenetic mechanisms of some imprinted diseases (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Mendelian traits in humans:
- Mendelian and non-mendelian traits
- classification of genetic diseases. OMIM and other databases relevant in medical genetics
- monogenic inheritance and multifactorial inheritance
· Genetic analysis in humans:
- pedigree construction: symbolism and criteria for the collection of family history
- the main types of pedigrees
- apparent exceptions to Mendel's laws: incomplete and age-dependent penetrance, variable expressivity, neomutations, genetic mosaicism, imprinting defects, male lethality for dominant X-linked characters, illegitimacy, anticipation.
- allelic, of locus and clinical genetic heterogeneity in most mendelian diseases
· Triplet repeat disorders and main pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Cancer genetic predisposition.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Multifactorial inheritance: quantitative and threshold characters and empirical risks.
· Inborn errors of metabolism: phenylketonuria. Neonatal screening.
· Defects of globins: hemoglobinopathies, thalassemia and hereditary persistence of fetal hemoglobin. The globin gene system in human and medical genetics.
· The phakomatosis: type 1 neurofibromatosis.
· From mapping to disease-gene identification: old and new approaches. Examples of approach for positional candidate and functional candidate (cystic fibrosis, Duchenne muscular dystrophy, Cornelia de Lange syndrome).
· From the Human Genome project to Personal Genomics. Characteristics of the Human Genome: genes and conserved non-coding sequences. 1000 genomes project and human genetic variation.
· Mendel and his experimental method:
- Mendel's first law, the segregation of alleles
- monohybrids and test cross
- Mendel's second law, the independent assortment
- hybrids and polyhybrids
- genotypic and phenotypic relationships in mendelian crosses: examples and applications
· Interaction between alleles and phenotypic effect: complete and incomplete dominance, codominance. Interactions between different genes. Pleiotropism. Multiple allele systems in humans: blood groups
· Independent and associated genes. Test cross and association test. Genetic maps.
· Chromosome theory of inheritance:
- human chromosomes as a vehicle of inheritance
- the human karyotype, polymorphisms and mutations
- chromosomal abnormalities in number and structure and clinical implications, pre- and postnatal cytogenetic diagnosis
- concept of chromosomal mosaicism
- molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications
· X chromosome inactivation, relevance of the phenomenon in X-linked genetic diseases.
· Diversity of the human genome: DNA polymorphisms (RFLP, VNTR, STR, SNP, CNV) and haplotype transmission. DNA polymorphisms in forensic genetics. The concepts of pharmacogenetics and nutrigenetics.
· Genetic imprinting and uniparental disomy. Pathogenetic mechanisms of some imprinted diseases (Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver- Russell syndrome).
· Genetic sex determination, examples of diseases with altered sex differentiation (adrenogenital syndrome, androgen insensitivity, SRY gene defects).
· Mendelian traits in humans:
- Mendelian and non-mendelian traits
- classification of genetic diseases. OMIM and other databases relevant in medical genetics
- monogenic inheritance and multifactorial inheritance
· Genetic analysis in humans:
- pedigree construction: symbolism and criteria for the collection of family history
- the main types of pedigrees
- apparent exceptions to Mendel's laws: incomplete and age-dependent penetrance, variable expressivity, neomutations, genetic mosaicism, imprinting defects, male lethality for dominant X-linked characters, illegitimacy, anticipation.
- allelic, of locus and clinical genetic heterogeneity in most mendelian diseases
· Triplet repeat disorders and main pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Cancer genetic predisposition.
· Genetic counseling and mendelian risks. The main types of genetic tests.
· Multifactorial inheritance: quantitative and threshold characters and empirical risks.
· Inborn errors of metabolism: phenylketonuria. Neonatal screening.
· Defects of globins: hemoglobinopathies, thalassemia and hereditary persistence of fetal hemoglobin. The globin gene system in human and medical genetics.
· The phakomatosis: type 1 neurofibromatosis.
· From mapping to disease-gene identification: old and new approaches. Examples of approach for positional candidate and functional candidate (cystic fibrosis, Duchenne muscular dystrophy, Cornelia de Lange syndrome).
· From the Human Genome project to Personal Genomics. Characteristics of the Human Genome: genes and conserved non-coding sequences. 1000 genomes project and human genetic variation.
Teaching methods
Each credit includes hours of frontal and innovative teaching. The innovative teaching activities consist in the deepening of specific topics of the course syllabus, that will be selected by the students and the teacher. Such activity will be carried out in active collaboration between students and teacher.
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
The course is divided into a series of lectures and classroom exercises with slide shows in Power Point. The lectures and exercises slides are uploaded to the Ariel website.
Teaching Resources
M. Genuardi, G. Neri
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
D. Ghisotti, L. Ferrari
Eserciziario di Genetica, Piccin
Genetica Umana e Medica, 4a edizione, edra 2017
R. L. Nussbaum, R. R. Mcinnes, H. F. Willard
Thompson & Thompson - Genetica in Medicina, EdiSES 2018
P.J. Russell
i-Genetica, 2a edizione, EdiSES 2007
D. Ghisotti, L. Ferrari
Eserciziario di Genetica, Piccin
Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 1
Lessons: 8 hours
: 4 hours
: 4 hours
Professor:
Gallina Andrea
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 4
Informal teaching: 16 hours
Lessons: 24 hours
: 12 hours
Lessons: 24 hours
: 12 hours
Professors:
Gervasini Cristina Costanza Giovanna, Sirchia Silvia Maria