DNA Polymorphism Discovery Resource

The National Human Genome Research Institute (NHGRI), in collaboration with the Centers for Disease Control and Prevention (CDC) and the National Institute of General Medical Sciences (NIGMS) and its Human Genetic Cell Repository, has developed a resource of cell lines and DNA samples that can be used to discover DNA sequence polymorphisms. This resource will be comprised of cell lines and DNA samples from 450 unrelated individuals, male and female. It is designed to reflect the diversity in the human population. In addition to the complete set, predefined nested subsets with 8, 24, 44, 90, samples encompassing the same range of diversity as the complete set are also available. Summaries of the numbers of individuals sampled from each population group will be available for the complete set and the subsets, but no medical, phenotypic, or ethnicity information will be associated with individual samples. The individuals sampled include European-Americans, African-Americans, Mexican-Americans, Native Americans, and Asian-Americans. The African-American, Mexican-American, and European-American samples came from individuals enrolled in CDC"s National Health and Nutrition Examination Survey (NHANES) (Vital Health Stat 1. 1994: No.32.) who gave informed consent explicitly to be part of this DNA Polymorphism Discovery Resource. A more complete description of the NHANES collection is given in Steinberg, K.K. 2001. Ethical challenges at the beginning of the millennium. Statist. Med. 2001; 20:1415-1419; PMID: 11343362.
Table 1. Composition of the DNA Polymorphism Discovery Resource
Number of Genomes
by Continent
Population Group Proportion of
Number of
Europe Africa America Asia
European-American 0.01 120 119 1 0 0
African-American 0.17 120 20 100 0 0
Mexican-American 0.39 60 36 5 19 0
Native American 0.05 30 2 0 28 0
Asian-American 0.10 120 12 0 0 108
Total number of individuals 450
Total number of genomes 189 106 47 108
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The information which follows was taken from Collins, F.S., Brooks, L.D., and Chakravarti, A. 1998. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 8(12): 1229-1231; PMID: 9872978 and is intented to provide additional information about the sampling strategy and the number of genomes represented in the sample set. The sampling strategy for the DNA Polymorphism Discovery Resource facilitates finding genetic variants in the entire human population (Table 1). Any population contains ~85% of the worldwide genetic variation, but none contains all of it. Because a random sample of residents of the United States would include genomes of mostly European origin, the DNA Polymorphism Discovery Resource includes individuals with non-European ancestry at more than their frequency in the U.S. population, although no attempt was made to be exhaustive or precisely balanced. The individuals sampled are residents of the United States who have ancestors from the major geographic regions of the world: Europe, Africa, the Americas, and Asia. Many U.S. residents have ancestors from more than one region, and such individuals are included in the DNA Polymorphism Discovery Resource. The European-American group includes non-Hispanic whites; the African-American group includes non-Hispanic blacks; the Americas group includes Mexican-Americans and Native Americans; and the Asian-American group includes individuals whose ancestors came from several countries in East and South Asia. Table 1 shows the number of individuals sampled from each population group and the expected number of genomes corresponding to the proportion of their ancestry from each geographic region. The second column shows current estimates of the average amounts of admixture for the groups sampled: African admixture for the European-Americans, Native American and African admixture for the Mexican-Americans, and European admixture for the other groups [Hanis, C.L., D. Hewett-Emmett, T.K. Bertin, and W.J. Schull. Origins of U.S. Hispanics. Implications for diabetes. Diabetes Care (Suppl. 3) 14: 618-627 (1991) PMID: 1914811; Parra, E.J., A. Marcini, J. Akey, J. Martinson, M.A. Batzer, R. Cooper, T. Forrester, D.B. Allison, R. Deka, R.E. Ferrell, and M.D. Shriver. Estimating African American admixture proportions by use of population-specific alleles. Am. J. Hum. Genet. 63: 1839-1851 (1998) PMID: 9837836].