PURPOSE: A population-based cohort from three state newborn screening programs was used to describe beta-globin gene cluster variation. METHODS: Blood spots from newborns homozygous for HbS were genotyped for five restriction fragment length polymorphisms (RFLPs) to construct beta-globin haplotypes. Haplotype distributions were compared by race/ethnicity and sex. Expected heterozygosities were calculated and compared with observed heterozygosities. RESULTS: Haplotype distributions did not differ between sexes for either blacks or Hispanics. Neither racial/ethnic group deviated from Hardy-Weinberg equilibrium; however, Hispanics had higher heterozygosity at two RFLPs compared with blacks. CONCLUSION: The differences between populations probably reflect recent migration and admixture rather than selection.
PURPOSE: A population-based cohort from three state newborn screening programs was used to describe beta-globin gene cluster variation. METHODS: Blood spots from newborns homozygous for HbS were genotyped for five restriction fragment length polymorphisms (RFLPs) to construct beta-globin haplotypes. Haplotype distributions were compared by race/ethnicity and sex. Expected heterozygosities were calculated and compared with observed heterozygosities. RESULTS: Haplotype distributions did not differ between sexes for either blacks or Hispanics. Neither racial/ethnic group deviated from Hardy-Weinberg equilibrium; however, Hispanics had higher heterozygosity at two RFLPs compared with blacks. CONCLUSION: The differences between populations probably reflect recent migration and admixture rather than selection.
Authors: Katherine L Ender; Margaret T Lee; Sujit Sheth; Maureen Licursi; Jennifer Crotty; Sandra Barral; Nancy S Green Journal: J Pediatr Hematol Oncol Date: 2011-10 Impact factor: 1.289