LABORATORY OF MEDICAL GENETICS AND FORENSIC BIOTECHNOLOGYModule LABORATORIO DI GENETICA MEDICA
Academic Year 2024/2025 - Teacher: Marco FICHERAExpected 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
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
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
Examples of frequently asked questions and / or exercises
Hardy-Weinberg equilibrium and its assumptions
Informativness of microsatellite markers
Bayes' Theorem