title: Confirmation of the potential usefulness of two human beta globin pseudogene markers to estimate gene flows to and from sub-Saharan Africans.
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.
authors.affiliation: Dipartimento di Biologia E. Calef, University Tor Vergata, Rome, Italy.
authors.forename: Bianca Maria
authors.initials: BM
authors.lastname: Ciminelli
authors.forename: Fiorenza
authors.initials: F
authors.lastname: Pompei
authors.forename: Michela
authors.initials: M
authors.lastname: Relucenti
authors.forename: J Koji
authors.initials: JK
authors.lastname: Lum
authors.forename: Jacques
authors.initials: J
authors.lastname: Simporé
authors.forename: Gabriella
authors.initials: G
authors.lastname: Spedini
authors.forename: Cristina
authors.initials: C
authors.lastname: Martínez-Labarga
authors.forename: Miguel G
authors.initials: MG
authors.lastname: Pardo
mesh_terms: D017954:Africa South of the Sahara; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005914:Globins