Genetic Analysis of Biodiversity

Academic Year 2025/2026 - Teacher: MARIA ANTONIETTA BUCCHERI

Expected Learning Outcomes

The main objective of the course is to develop knowledge related to the following priority topics:

1. Neutralist theory as a basis for interpreting genetic variation;

2. Study and analysis of mutations as a measure of variability;

3. Acquisition of the main molecular techniques and experimental approaches appropriate for measuring genetic biodiversity.

Course Structure

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Lectures; teaching laboratories.

Required Prerequisites

Mendelian genetics: genes, alleles, loci; segregation; linkage; recombination; mutations. Phenotype and genotype. Basis of individual and species-level variability.

Attendance of Lessons

According to the guidelines relating to the Degree Course.

Detailed Course Content

DNA mutations and polymorphisms; heterozygosity; genetic association analysis; drafting of genetic and physical maps. Analysis of polymorphisms and haplotypes as a tool for genetic monitoring of natural populations. Quantitative traits, quantitative trait loci (QTL) mapping and marker assisted selection. Molecular clocks, neutral theory, and nearly neutral theory. DNA barcoding and its applications in biodiversity analysis. Next-generation sequencing, metabarcoding, and environmental DNA analyses. Climate change and genetic analyses to evaluate its impact on biodiversity. Adaptations to extreme environments.

Textbook Information

John Maynard Smith, Evolutionary Genetics, Second Edition, Oxford University Press, ISBN: 9780198502319.

Scientific papers proposed by the Professor.

Course Planning

 SubjectsText References
1Monitoring genetic diversity and conservation status of natural populations: strategies, molecular tools, and case studies.Scientific papers.
2Mutations and polymorphisms. Genetic markers. Heterozygosity and fixation index. Working with DNA in the laboratory: molecular techniques for marker analysis (restriction enzymes, Southern blotting, PCR, Sanger sequencing).Scientific papers.
3Linked loci. Linkage disequilibrium. Haplotypes and phasing. The chromosome as a patchwork. Analysis of genetic introgression to study gene flow in natural populations and assess the invasiveness of alien species.Scientific papers.
4Molecular clock. Slow-evolving and fast-evolving loci in evolutionary analysis. Neutralist and nearly neutralist theories. Mitochondrial haplotypes. Reconstruction of human evolution from genetic data.Scientific papers.
5Recombination, LOD score, and genetic map construction. Physical maps. Genome-Wide Association Studies (GWAS) and applications in biodiversity analyses.Scientific papers.
6Quantitative traits. Heritability of polygenic traits. Artificial selection. Mapping quantitative traits. Marker-assisted selection.Scientific papers.
7Climate change. Genetic tools for monitoring natural populations in response to climate change and predictive models for their survival. Adaptations to extreme environments.Scientific papers.
8Second- and third-generation sequencing. Barcoding and biodiversity analysis: common loci and their applications to biological problems. Metabarcoding and environmental DNA analysis.Scientific papers.
9How mutations spread: selection, genetic drift, gene flow. Populations in equilibrium and the Hardy-Weinberg principle. Case studies of applications in monitoring natural populations.Scientific papers.

Learning Assessment

Learning Assessment Procedures

The examination will consist of an oral test focusing on the analytical discussion of at least two research articles in English (excluding reviews) on topics related to genetic analysis of biodiversity, chosen by the student and not limited to the topics covered in the course.

The ability of elaborating theories based on experimental data and the ability to

express it analytically and synthetically will be assessed. Upon request, a traditional oral examination will be conducted with at least five different questions.

Examples of frequently asked questions and / or exercises

Indices for measuring genetic variation; principles of NGS analysis; PCR in genetic analysis; linkage equilibrium and linkage disequilibrium; haplotype analysis. Other questions regarding the program will be asked depending on the articles presented by the candidate during the exams.

VERSIONE IN ITALIANO