B016921 - MEDICAL GENETICS

Italian

At the end of the course the student will know:
analyzing a pedigree;
identifying the molecular mechanisms for the transmission of hereditary diseases;
classifying the different types of mutations and discuss their role in determining pathological diseases;
recognizing the factors that determine the variability of quantitative characters and complex diseases
the molecular bases of chromosomal abnormalities
the principles of cytogenetic and molecular genetic techniques applied to genetic pathology
the basis of cancer genetics

Classification of genetically determined diseases
Normal and pathological karyotype
Cytogenetic diagnosis of chromosomal diseases
Mendelian inheritance
Atypical inheritance
Multifactorial inheritance
Molecular diagnosis of monogenic diseases
Linkage analysis
Cancer genetics
Genetic testing and counseling

Basic knowledges of Molecular Biology and Genetics

Lectures on various topics covered in the program with the help of educational material (power-point presentations)

The oral examination will be the final assessment of learning. The topics discussed will reflect those covered during the course and included in the program. The final evaluation will take into account the knowledge of the subject matter, the ability and clarity of the speech and the ability to use an appropriate terminology.

Chromosomal monogenic and genomic disorders.
Classification of genetically determined diseases.
Chromosomal disorders
The normal and pathological karyotype: the number and structure of chromosomes
abnormalities, microdeletion and microduplications syndromes, ISCN nomenclature,
Cytogenetic diagnosis of chromosomal diseases: karyotype analysis, FISH, CGH and
array CGH
Mendelian inheritance: autosomal dominant, recessive and X-linked
Mendel's experiments, the basic concepts of probability, family tree. Autosomal
dominant inheritance with incomplete penetrance, variable expressivity, pleiotropy,
germline mosaicism. Codominance: blood groups. Autosomal recessive inheritance:
inbreeding, allelic and locus heterogeneity. X-linked inheritance. Examples of specific disease for each category.
mitochondrial inheritance, genomic imprinting, uniparental disomy, anticipation and
trinucleotide expanding diseases, digenic diseases.
Multifactorial inheritance
Methods for molecular diagnosis of monogenic diseases: RFLP, OLA, ASO, SSCP, HRMA, PCR, sequencing analysis and NGS
MLPA and genomic rearrangements
Linkage analysis
Cancer genetics
Genetic testing and counseling :definition, genetic counseling objectives and types with particular reference to prenatal diagnosis of chromosomal and monogenic diseases

T. Strachan and A. Read. Genetica molecolare umana. Ed. Zanichelli