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
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
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
Lectures with the aid of PowerPoint, exercises at the blackboard
Assessment methods and criteria
Written examination with 8 questions and exercises, 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 rely on 3-5 random questions chosen from the program. The final result will be the mean between the results of the two examinations.
