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


CONCLUSIONS
The differences between populations probably reflect recent migration and admixture rather than selection.
Crawford
Dana C
DC
National Center on Birth Defects and Developmental Disabilities, Division of Applied Public Health Training, Epidemiology Program Office, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
Caggana
Michele
M
Harris
Katharine B
KB
Lorey
Fred
F
Nash
Claudia
C
Pass
Kenneth A
KA
Tempelis
Corinna
C
Olney
Richard S
RS
D000755:Anemia, Sickle Cell / Q000235:genetics*; D044383:Black People / Q000235:genetics; D015331:Cohort Studies; D004247:DNA / Q000097:blood / Q000235:genetics; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D044465:White People / Q000235:genetics
D017931:DNA Primers; D006451:Hemoglobin, Sickle; D005914:Globins; D004247:DNA