Toscani in Italia [TSI]

The biomaterials currently available for this population are shown in the table below:  

Population  Toscani in Italia [TSI]
DNA Sample Panel  HAPMAPV14
Individual DNA Samples  117
Individual Cell Cultures  117

Principal Investigators for Community Engagement and Sample Collection   

  • Deborah Gordon - University of California at San Francisco, San Francisco, CA 
  • Maria-Cristina Manca - University degli Studi di Firenze, Florence, Italy

Population Description

These cell lines and DNA samples were prepared from blood samples collected in a small town near Florence in the Tuscany region of Italy. All of the samples are from unrelated individuals who identified themselves as having at least three out of four Tuscan grandparents.

These samples, while not genetically "atypical", do not necessarily represent all Tuscans, nor all Italians, whose population history is complex. The population should not be described merely as "Italian", "Southern European", "European", or "Caucasian", since each of those designators encompasses many populations with many different geographic ancestries. The reference to these samples in the Italian language is preferred.

After the complete descriptor “Toscani in Italia” has been provided, it is acceptable to use the shorthand label “Toscani”or the abbreviation “TSI” in the remainder of the article or presentation. However, the full descriptor for each population should be provided before the shorthand labels are used; this will help to avoid the risks associated with over-generalization of findings.

It may be scientifically appropriate to pool data from these samples with data from other ancestrally related groups, when the data show that the groups have similar allele frequencies). If the groups all have European ancestry, the designation "European ancestry" (abbreviation: EUA) to describe the combined analysis panel is recommended. If only groups very closely related to the Toscani have similar allele frequencies, then another abbreviation may need to be used.

Members of the community where these samples were drawn developed a written statement that expresses their views about genetic variation research and their hopes about how their samples will be used.

Additional guidance about how to refer to the populations can be found at Guidelines for Referring to the Populations in Publications and Presentations.

Policies and Guidelines