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Title: Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS. Author: Crawford DC, Caggana M, Harris KB, Lorey F, Nash C, Pass KA, Tempelis C, Olney RS. Journal: Genet Med; 2002; 4(5):328-35. PubMed ID: 12394345. Abstract: 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.[Abstract] [Full Text] [Related] [New Search]