Learning objectives
The student will acquire basic information about human genetics as planned and will be able to process such information in order to solve practical problems.
In particular, the student should be able to:
1) Understand the main concepts related to human genetics, with particular reference to diseases from chromosomal alterations, genetic diseases, type of inheritance, multifactorial characters, molecular pathology and population genetics.
2) Use the specific language of human genetics, and the basic definitions in the genetic filed; apply mathematical and statistical methods, even complex ones, in order to solve practical problems of human genetics, understand the basic concepts of human genetics in english.
3) Evaluate and analyze data necessary for the resolution of problems mainly related to genetic counselling.
4) Explain the problems related to various human diseases and their inheritance.
5) Connect the information learned, both among themselves and with all the other subjects learned in the Bachelor’s degree and during the two-year courses of the Master’s Degree; update his knowledge by consulting scientific publications of human genetics, and databases such as OMIM; achieve the basic skills required for inclusion in professional activities in the field of the human genetics, such as genetic counseling.
Prerequisites
Having a solid knowledge of Genetics
Course unit content
Chromosomes, chromosomal anomalies, formal genetics, multifactorial traits, genetics of sex chromosomes, mitochondrial genome and genetics, nuclear genome and its organization, mutation and repair, molecular pathology, identification of disease genes by NGS, blood groups, population genetics and evolution, pharmacogenetics, genetics and cancer, immunogenetics.
Some hours will be devoted to the resolution of exercises useful for understanding the real problems of human genetics and for carrying out the exam.
Full programme
Revision of the cell cycle, of the chromosomes and of the chromosome structure, human chromosomes, revision of mitosis, meiosis and crossing over, human gametogenesis, characteristics of human chromosomes, sex chromosomes, karyotype, polyploidy, aneuploidies monosomies, trisomies, structural variations of chromosomes.
Formal human genetics, revisions of Mendel's laws, pedigrees, types of inheritance with related diseases, complications in Mendelian models of inheritance.
Human multifactorial traits, polygenic traits, heritability, study of twins, correlation coefficient, concordance, multifactorial diseases with threshold effect.
Differences between X and Y chromosomes, pseudoautosomal regions, sex determination, chromosomal, gonadal and phenotypic sex, sex ratio, sex-linked and sex-influenced characters, evolution of sex chromosomes.
Organization of the human mitochondrial genome, replication, mitochondrial genetics and inheritance, mutations of mitochondrial DNA and related pathologies, threshold effect.
Organization of the human nuclear genome, organization of genes for different RNAs, gene families, overlapping genes, pseudogenes, retrogens, non-coding human DNA, recombination and gene mapping of disease genes, LOD score, positional cloning, hints at sequencing of the human genome
Types of mutations, allelic expansion, anticipation, mutation frequency, de novo mutations, induced mutations, types of mutagens, hints to DNA repair systems.
Molecular pathology, types of pathological alleles, metabolic diseases, hemoglobinopathies, heme group diseases, NGS and WGS for the identification of disease genes.
Human blood groups, AB0 system, CDE, Kell-Cellano, fetal erythroblastosis, secretory-non-secretory phenotype
Population genetics and human evolution, use of Hardy-Weinberg's law and Mendel's law for disease prediction, fitness, genetic drift, heterozygosity, heterozygote advantage, founder effect, genes specific oh humans.
Pharmacogenetics, influence of SNPs on pharmacodynamics and pharmacokinetics, hints of pharmacogenomics.
Hints of cancer etiology, tumor formation and progression, tumor suppressors and proto-oncogenes, examples of genes involved in the development of tumors and examples-models of tumor progression.
Immunogenetics, organization of genes involved in the production of antibodies, combinatorial and junctional diversity, maturation of affinity.
Bibliography
Genetica Umana Molecolare (Strachan, Read), Zanichelli, if preferred the english version Human Molecular Genetics (Strachan, Read) Taylor & Francis Inc.
Eredità (Cummings), Edises, including the online version.
Teaching methods
48-hour lectures with the aid of PowerPoint and exercises for the preparation of the exam.
Assessment methods and criteria
The comprehension will be evaluated trough a written examination with 8 questions, among which theoretical questions (3 to 4) and exercises (4 to 5).
The written examination, which will last one hour and 40 minutes, will focus on the entire program and each question is evaluated with a maximum of 4 points, for a total maximum of 32 points. The sum of the scores defines the vote, which is always rounded up. In case of more than 30 points, the assigned rating will be 30 magna cum laude.
As a rule, the vote can be declined within 7 days.
