SCIENZE BIOMEDICHE E BIOTECNOLOGICHEMedical BiotechnologiesAcademic Year 2022/2023
9796184 - LABORATORIO DI GENETICA MEDICA E BIOTECNOLOGIE FORENSI
Module LABORATORIO DI GENETICA MEDICA
Teacher: Marco FICHERA
Expected Learning Outcomes
At the end of course, students should be able to:
To describe the genetic and genomic polymorphisms and their usage in forensic genetics, To understand the different techniques used to
analyse the genetic and genomic variations and to understand The probability approach for DNA profiling and paternity testing
Course Structure
Frontal teaching and practical exercises.
Should teaching be carried out in mixed mode or remotely, it may
be necessary to introduce changes with respect to previous statements,
in line with the programme planned and outlined in the syllabus.
Required Prerequisites
Knowledge of the fundamental principles of Genetics and Human Genetics.
Attendance of Lessons
At least 70%
Detailed Course Content
- Genetic and genomic variations and their causes
- Concepts of polymorphism and mutation and their
evolutionary significance
- Functional Classification of
sequence mutations
- Costitutional and somatic
mutations
- Inheritance patterns of Mendelian and sex-linked
genetic diseases
- Dominant, recessive and sex-linked alleles
- Pseusodominant and digenic
inheritance
- Penetrance and expressivity
- Mosaicism
- Genomic imprinting
- Anticipation and repeat
expansion diseases
- Other patterns of inheritance
- Mitochondrial inheritance
- Polygenic and multifactorial
inheritance
- Models of multifactorial
diseases
- The genetic basis of complex diseases
- Population Genetics
- the Hardy-Weinberg equilibrium and its
deviations
- Founder effect and genetic
drift
- I polimorfismi del DNA e metodi
d’identificazione
a.
Sanger sequencing, SNP-array and
NGS
b. The DNA polymorphisms in forensic genetics, DNA typing and the use of CODIS
software
c. Chromosome Y and mitochondrial polymorphisms
d.
The use of the population
databases in forensic genetics
- Statistics techniques in the analysis
of DNA polymorphisms
a. The probability approach for DNA profiling and paternity testing
b.The Bayes theorem: probability
and likelihood
Textbook Information
Forensic DNA Analysis
Technological Development and Innovative Applications
ISBN 9781774637586
Course Planning
| Subjects | Text References |
1 |
Genetic and genomic variations and their causes
| Part 1. DNA Polymorphisms and Genome Structure: Different Scales of Variation in the Human Genome |
2 |
Inheritance patterns of Mendelian and sex-linked
genetic diseases
| |
3 |
Other patterns of inheritance
| |
4 |
Population Genetics
| |
5 | DNA Polymorphisms and their identification | |
6 |
Statistical techniques in the analysis
of DNA polymorphisms
| |
Learning Assessment
Learning Assessment Procedures
The assessment will examine
the relevance of the answers to the questions asked, the richness and congruity
of the contents and the ability of the student to connect with other topics
covered by the program. The language property and the overall expressive
capacity of the student will also be taken into consideration.
Examples of frequently asked questions and / or exercises
Hardy-Weinberg equilibrium and its assumptions
Informativness of microsatellite markers
Bayes' Theorem
Versione in italiano