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Population Description
These cell lines and DNA samples were prepared from blood samples collected throughout Puerto Rico. A majority of the samples are from parent-adult child trios. It was required that at least six of the eight great-grandparents of the child in the trio were Puerto Ricans. Because half of all Puerto Ricans live in different localities in the United States and there is constant migration back and forth between the U.S. and Puerto Rico, for purposes of this sample collection, trios were regarded as Puerto Rican based exclusively on the place of birth of the child’s great-grandparents. Since none of the Puerto Rico municipalities were excluded from the sampling and because Puerto Rico is culturally homogeneous, these samples can be considered to be generally representative of all Puerto Ricans.
Referring to Populations
Puerto Rico is an archipelago; inhabitants from the various islands were included in the sampling. Thus, “PUR,” an abbreviation not circumscribing the samples to the main island of Puerto, should be used to describe this population. These samples should not be referred to as “Hispanic” or “Latino” since these are cultural designators, encompassing populations with very diverse ancestries.
The full population descriptor is Puerto Rican in Puerto Rico. The shorthand label is Puerto Rican and the abbreviation is PUR.
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 all of the groups are from the Americas, the designation “Americas” (AMR) to describe the combined analysis panel is recommended. If only groups very closely related to the Puerto Ricans have similar allele frequencies, then another abbreviation may 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.
Principal Investigators
References
Trios:
Unrelated Individuals: