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 ianalyze data necessary for the resolution of problems mainly related to genetic counselling; evaluate the teaching.
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 three-year period; 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, at the end of the three-year course.
Prerequisites
It is strongly recommended to have passed the examination of genetics
Course unit content
Chromosomes, chromosome abnormalities, formal genetics, multifactorial traits, gender genetics, mitochondrial genome and genetics, nuclear genome, mutation and repair, molecular pathology, genetics and cancer, population genetics, evolution, genetic counseling, behavioral genetics, pharmacogenetics, immunogenetics , hints of epigenetics.
12 hours will be devoted in the execution of problems useful to understand the real problems in the filed of the human genetics and useful for the final examination.
Full programme
Cell cycle, chromosomes, structure of chromosomes, human chromosomes, mitosis and meiosis, crossing over, gametogenesis, characteristics of human chromosomes, sex chromosomes, karyotype, polyploidy, monosomy, trisomy, aneuploidy, structural changes in chromosomes.
Formal human genetics, Mendel's laws, pedigree, types of inheritance with related diseases, complications in Mendelian inheritance patterns.
Multifactorial characters , polygenic traits, study of twins, threshold effect.
Differences between chromosomes X and Y, pseudoautosomic regions, chromosomal, gonadal and phenotypic gender, sex ratio, X chromosome inactivation, charachters linked to the geneder.
Organization of the mitochondrial genome, mitochondrial genetics and inheritance, mitochondrial DNA, mitochondrial mutations.
Organization of the nuclear genome, genes for proteins, RNA genes, gene families, overlapping genes, pseudogenes, non-coding DNA, recombination and gene mapping, LOD score, human genome sequencing.
Types of mutation, allelic expansion, anticipation, mutation frequency, induced mutations, types of mutagens, DNA repair.
Molecular pathology, pathological alleles, metabolic diseases, hemoglobinopathies, blood groups.
Genetics and cancer, epidemiology and etiology of cancer, tumor progression, oncogenes and tumor suppressor, p53, instability of the genome, colon cancer as tumorigenesis model.
Population genetics, Hardy-Weinberg principle, validity of the principle and exceptions, human evolution, human-specific genes.
Genetic testing, behavioral genetics, pharmacogenetics, immunogenetics, epigenetics and genomic imprinting.
Bibliography
Eredità (Cummings), Edises, including the online version.
Genetica Umana Molecolare (Strachan, Read), Zanichelli.
Teaching methods
40-hour lectures with the aid of PowerPoint, 12-hour exam preparation exercises
Assessment methods and criteria
The comprehension will be evaluated trough a written examination with 8 questions and exercises, with a optional oral examination.
The written examination will focus on the entire program (excpet for cancer genetics, immunogenetics and epigenetics) 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.
The oral examination, optional and possible only for those who have taken at least 18 in the written examination, will take places within 7 days from the day of the written examination, and will rely on 3-5 random questions chosen from the program. The final result will be the mean between the results of the two examinations.
