Confirmation of the Potential Usefulness of Two Human Beta Globin Pseudogene Markers to Estimate Gene Flows to and from Sub-Saharan Africans

Document Type

Article

Authors

Bianca Maria Ciminelli, Dipartimento di Biologia “E. Calef,” University “Tor Vergata,” Via della Ricerca Scientifica, 00133 Rome, Italy.
Fiorenza Pompei, Dipartimento di Biologia “E. Calef,” University “Tor Vergata,” Via della Ricerca Scientifica, 00133 Rome, Italy.
Michela Relucenti, Dipartimento di Biologia “E. Calef,” University “Tor Vergata,” Via della Ricerca Scientifica, 00133 Rome, Italy.
J. Koji Lum, Department of International Affairs and Tropical Medicine, Tokyo Women’s Medical University, Tokyo 162-8666, Japan.
Jaçues Simporé, Centre Médical Saint Camille (CMSC), Ouagadougou, Burkina Faso.
Gabriella Spedini, Dipartimento di Biologia animale e dell’Uomo, University “La Sapienza,” Rome, Italy.
Cristina Martínez-Labarga, Dipartimento di Biologia “E. Calef,” University “Tor Vergata,” Via della Ricerca Scientifica, 00133 Rome, Italy.
Miguel G. Pardo, Laboratori Analisis Cliniques Dr. Sabater Tobella, Clinica Institut Dexeus, Barcelona, Spain.

Abstract

Two polymorphic sites, –107 and –100 with respect to the “cap” site of the human beta globin pseudogene, recently discovered in our laboratory, turned out to have an ethnically complementary distribution. The first site is polymorphic in Europeans, North Africans, Indians (Hindu), and Oriental Asians, and monomorphic in sub-Saharan Africans. Conversely, the second site is polymorphic in sub-Saharan African populations and monomorphic in the aforementioned populations. Here we report the gene frequencies of these two polymorphic sites in nine additional populations (Egyptians, Spaniards, Japanese, Chinese, Filipinos, Vietnamese, Africans from Togo and from Benin, and Pygmies), confirming their ethnospecificity and, through the analysis of these two markers in Oromo and Amhara of Ethiopia (two mixed populations), their usefulness in genetic admixture studies. Moreover, we studied another marker polymorphic in sub-Saharan African populations only, a TaqI restriction fragment length polymorphism located in the same region as the present markers, demonstrating the absence of linkage disequilibrium between it and the –100 site, so that we can exclude that the information they provide is redundant.

Recommended Citation

Ciminelli, Bianca Maria; Pompei, Fiorenza; Relucenti, Michela; Lum, J. Koji; Simporé, Jaçues; Spedini, Gabriella; Martínez-Labarga, Cristina; and Pardo, Miguel G. (2002) "Confirmation of the Potential Usefulness of Two Human Beta Globin Pseudogene Markers to Estimate Gene Flows to and from Sub-Saharan Africans," Human Biology: Vol. 74: Iss. 2, Article 6.
Available at: https://digitalcommons.wayne.edu/humbiol/vol74/iss2/6