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Gene Polymorphism and Human Pigmentation

Award Information

Award #
Funding Category
Awardee County
Congressional District
Funding First Awarded
Total funding (to date)

Description of original award (Fiscal Year 2002, $496,053)


The overall goal of this project is to determine, with a high degree of accuracy, the pigmentation phenptype (hair, eye, and skin color) of an individual from a forensic DNA sample. Genetic data suggest that the variation in human pigmentation is primarily is the result of the action of four genes (MC1R, P, MATP, ASIP). Sequence variaiton (i.e., polymorphism) within these specific pigmentation genes results in normal human pigment variation and can therefore be correlated with hair, skin, and eye color. Consequently, the analysis of these genetic markers in DNA evidence can potentially be used to predict the hair, eye, and skin color of the donor of the evidence. This information will be of value in criminal, missing persons, and mass dissaster investigation.

This research will correlate variations of polymorphic sites in MC1R, P, MATP, and ASIP with normal human pigmentation. The project will proceed in three phases. Phase 1 is to determine the spectrum of polymorphism in these four genes in a limited number of individuals of diverse ethic origins and various pigmentation types, exploiting the known polymorphisms of these genes and expanding the data set of polymorphisms. Phase 2 is to correlate these polymorphisms with pigmentation types in a representative sample of individuals. Phase 3 will be to adapt this analysis to forensic DNA samples. Phase 1 and 2 are the subject of this award. Phase 3 studies will be the subject of a future renewal application.


This is supplement #1 to award 2002-IJ-CX-K010. The first phase of this project included a comprehensive population study to identify and characterize polymorphisms that can predict hair, skin, and eye pigmentation in normal individuals. Statistical tests to determine the robustness of the models have been successful. Supplemental studies will include a blind study of 250 individuals (to further test the models), development of a multiplexed PCR analytical method (to be performed in collaboration with NIST), evaluation of the assay on simulated biological evidence, and performance of SWGDAM developmental validation studies.


Date Created: September 8, 2002