Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS.

Crawford DC, Caggana M, Harris KB, Lorey F, Nash C, Pass KA, Tempelis C, Olney RS
Genet Med. 2002 4 (5): 328-35

PMID: 12394345 · DOI:10.1097/00125817-200209000-00003

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.

MeSH Terms (20)

African Continental Ancestry Group Anemia, Sickle Cell Cohort Studies DNA DNA Primers European Continental Ancestry Group Female Gene Frequency Genotype Globins Haplotypes Hemoglobin, Sickle Hispanic Americans Humans Infant, Newborn Male Neonatal Screening Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Risk Factors

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