Genetics in medicine : official journal of the American College of Medical Genetics · 2002
Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS.
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Crawford Dana C, Caggana Michele, Harris Katharine B, Lorey Fred, Nash Claudia, Pass Kenneth A, Tempelis Corinna, Olney Richard S
Аннотация
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.
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.