Genetics and epigenetics: Basic concepts

Chiara Fenoglio

Research output: Chapter in Book/Report/Conference proceedingChapter


Genetics is fundamental to our understanding of human variation, and by linking medical and evolutionary themes, it enables us to understand the origins and impacts of our genomic differences. The types of genetic variations used in genetic studies have changed over the last 20 years and can be classified into five major classes: RFLP (restriction fragment length polymorphism), VNTR (variable number of tandem repeat), STR (short tandem repeat or microsatellite), SNP (single- nucleotide polymorphism), and CNV (copy-number variation). Genetic linkage analysis using these tools helped to map and discover genes responsible for hundreds of hereditary diseases. Furthermore, construction of the international SNP database and recent development of high-throughput SNP typing platforms enabled us to perform genome-wide association studies, which have identified genes (or genetic variations) susceptible to common diseases. Moreover, in recent years genome-wide sequencing of individual DNAs is gaining relevant scope. Likewise, epigenetic factors determined by gene-environment interactions, including systematic exposures or chance encounters with environmental factors in one's surroundings, add even more complexity to individual disease risk and the pattern of disease inheritance. Epigenetics comprises the investigation of chemical modifications in the DNA and histones that regulates the gene expression or cellular phenotype. Genetics and epigenetics, together with their newly designed technologies capable to analyze changes, have disclosed an appealing scenario that will offer for the biomedical sciences new insight for the study of neurodegenerative diseases, multifactorial complex diseases, and rare diseases. In this chapter, the main genetic and epigenetic variations will be overviewed together with the technologies adapted for their study, and the use of their modifications as possible biomarkers in several diseases will be summarized.

Original languageEnglish
Title of host publicationNeurodegenerative Diseases: Clinical Aspects, Molecular Genetics and Biomarkers
PublisherSpringer-Verlag London Ltd
Number of pages15
ISBN (Print)9781447163800, 1447163796, 9781447163794
Publication statusPublished - Mar 1 2014


  • C9ORF72
  • Frontotemporal lobar degeneration
  • Genetics
  • Progranulin ( GRN )
  • Risk factor
  • Tau

ASJC Scopus subject areas

  • Medicine(all)


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