Medical Genetics - HUMAN GENETICS (2016/2017)

Course code
Name of lecturer
Cristina Bombieri
Number of ECTS credits allocated
Academic sector
Language of instruction
II sem. dal Mar 1, 2017 al Jun 9, 2017.

To show the organization of the course that includes this module, follow this link * Course organization

Lesson timetable

II sem.
Day Time Type Place Note
Tuesday 2:30 PM - 4:30 PM lesson Lecture Hall C  

Learning outcomes

The course aims to provide competences of human molecular genetics and of advanced technologies and methods used in genetic analysis.
At the end of the course, the students will have knowledge and tools necessary for the understanding of principles and mechanisms responsible for the transmission of normal and abnormal characters in humans, as well as the mode of occurrence of hereditary biological variation.


- Cytogenetics: human chomosomes, normal karyotype. Chromosomal abnormalities, numerical and structural. Chromosomal polymorphisms and CNV.
- Medical cytogenetics. Chromosomic syndromes and Genome disorders. Uniparental disomy. Uniparental diploidy: hydatiform moles and ovarian teratomas. Parent-of-origin effects, imprinting and genomic imprinting disorders.
- Fundamentals of classical genetics. Genetic diseases and hereditary diseases. Mendelian inheritance and atypical inheritance patterns: Mitocondrial inheritance, heteroplasmy and mitochondrial diseases, reduced penetrance, varable expressivity; digenic and triallelic inheritance, incomplete dominance, etc. Mosaicism. X chromosome inactivation. Pedigree construction and analysis.
- Molecular genetics in medicine. Gene and chromosomal mutations, mutation nomenclature. Mutagenesis and DNA repair. Molecular pathology of the gene: biological relevance and effect on the phenotype of mutations, methods for mutation classification as disease-causing. Gain and loss of function mutations, dominance and recessiveness. Genotype-phenotype correlation.
- Diseases due to expansion of unstable repeat sequences (dynamic mutations). Unstable repeat expansion, premutation and full mutation, Sherman's paradox, anticipation.
- Genetic variation in individuals and populations. Mutation and polymorphism. The Hardy-Weinberg law, allele and genotype frequency calculation. Inbreedeng and relatedness
- Bases of human genetics. Human genome organization, gene order on human chromosomes. Structure of eukaryotic genes. Repetitive DNA. DNA polymorphisms: RFLP, SNP, VNTR, minisatellites, microsatellites. Genetic markers, physical and genetic maps. Linkage Disequilibrium.
- Application of genetic polymorphism analysis: Individual identification, paternity testing. Total and partial chimerism after bone marrow transplantation. Diagnosis by linkage analysis.

The teaching will be delivered in English, through frontal sessions covering the whole exam program (12 lessons).
To successfully address the course, rudimentary knowledge of biology and formal genetics fundamentals may be helpful. To this purpose the first lessons of the module will be dedicated to briefly recap this basic concepts. The Human Genetics module is propaedeutic for the module of Fundamental of Medical Genetics.
Oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, will be made available to students, in pdf format for download, through a dedicated homepage on the University e-learning platform, troughout the course. Additional didactic supports, can be provided to the students missing some or all the basic knowledge.
During the whole Academic Year, students may request personal reception to the teachers, by e mail.

Reference books
Author Title Publisher Year ISBN Note
Strachan, Goodship, Chinnery Genetics and Genomics in Medicine (Edizione 1) Garland Science - Taylor and Francis Group 2014
Bradley Schaefer G., Thompson J.N. jr. Medical Genetics – An integrated approach (Edizione 1) McGraw-Hill 2014
Nussbaum, McInnes, Willard Thompson & Thompson Genetics in Medicine (Edizione 8) Elsevier 2016

Assessment methods and criteria

The exam consists in a single oral discussion on the topics listed in the syllabus of both the modules, simultaneously. See details in the “Assessment methods and criteria” section relative to the whole teaching.