Puerto Rican in Puerto Rico [PUR]

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

Population  Puerto Rican in Puerto Rico [PUR]
DNA Sample Panel  MGP00004
Individual DNA Samples  139
Individual Cell Cultures  139

Principal Investigators 

  • Julie Dutil - Ponce School of Medicine, Ponce, Puerto Rico
  • Juan Carlos Martínez-Cruzado - University of Puerto Rico, Mayagüez, Puerto Rico 
  • Taras K. Oleksyk - University of Puerto Rico, Mayagüez, Puerto Rico

Population Description

These cell lines and DNA samples were prepared from blood samples collected throughout Puerto Rico. All of the samples are from mother-father-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. Because 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.

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 complete descriptor “Puerto Rican in Puerto Rico” should be used the first time these samples are referred to in an article or presentation. After the complete descriptor has been provided, it is acceptable to use the shorthand label“Puerto Rican” or the abbreviation “PUR” in the remainder of the article or presentation.

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 are all 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.

Policies and Guidelines


1. Ruaño G, Duconge J, Windemuth A et al. (2009) Physiogenomic analysis of the Puerto Rican population.Pharmacogenomics 10(4): 565-77.

2. Choudhry S, Burchard EG, Borrell LN et al. (2006) Ancestry-environment interactions and asthma risk among Puerto Ricans. Am J Respir Crit Care Med 174(10): 1088-93.

3. Martínez-Cruzado JC, Toro-Labrador G, Viera-Vera J et al. (2005) Reconstructing the population history of Puerto Rico by means of mtDNA phylogeographic analysis. Am J Phys Anthropol 128(1): 131-55.

4. Martínez-Cruzado JC, Toro-Labrador G, Ho-Fung V et al. (2001) Mitochondrial DNA analysis reveals substantial Native American ancestry in Puerto Rico. Hum Biol 73(4): 491-511.