Table 1 Molecular Characterization of the Classical Sickle Haplotypes
Site
3′ ψβ HincII Aγ1 HindIII Gγ1 HindIII 5′ ε HincII
Sequencea GTTGAC AAGCTT AAGCTT GTTGAC
Range 5,260,457–5,260,462 5,269,799–5,269,804 5,274,717–5,274,722 5,291,563–5,291,567
rsID rs968857 rs28440105 rs2070972 rs3834466
Position (hg19) 5,260,458 5,269,799 5,274,717 5,291,563–5,291,564
Senegal + − + −
Benin + − − −
CAR − − + −
Cameroon + + + −
Arabian/Indian + − + +
r2b 0.000 0.016 0.003 0.020
D′b −0.104 0.930 0.094 −0.853
Ancestral T C C G
Status + − − −
Derived C A A GT
Status − + + +
a Underlining indicates the polymorphic position.
b Pairwise linkage disequilibrium values are shown with respect to rs334.