Global Haplotype Diversity in the Human Insulin Gene Region

Details of 56 polymorphisms within a 7.8-kb region surrounding the insulin minisatellite are presented. Locations in bp are consistent with terminology of Julier et al. (1991). Ancestral states were determined by comparing sequence data between humans, chimpanzee, gorilla, and orangutan. ^* indicates polymorphisms for which ancestral states were ambiguous as both human alleles were found in different primate species. Allele frequencies of ancestral and derived alleles are presented and are combined for either all African or all non-African populations. The type of polymorphism is indicated as Ti (transition), Tv (transversion), and ID (insertion/deletion). Over half of the polymorphisms are located at or near mutational hotspots (Templeton et al. 2000). (CpG) denotes polymorphism at a CpG doublet, (α) denotes polymorphisms within 3 bp from a TGRRGA polymerase α-arrest site, and (r) denotes polymorphisms located within mononucleotide run of ≥5 bases. Nomenclature of polymorphisms published elsewhere is indicated with reference source as follows: (a) Elbein et al. (1985); (b) Kelsoe et al. (1988); (c) Julier et al. (1991); (d) Lucassen et al. (1993); (e) Owerbach and Gabbay (1993); (f) Johnson et al. (2001).