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

被引：12

作者：

Crawford, DC

Caggana, M

Harris, KB

Lorey, F

Nash, C

Pass, KA

Tempelis, C

Olney, RS

机构：

[1] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30341 USA

[2] Ctr Dis Control & Prevent, Epidem Intelligence Serv, Div Appl Publ Hlth Training, Epidemiol Program Off, Atlanta, GA 30341 USA

[3] New York State Dept Hlth, Wadsworth Ctr, New York, NY USA

[4] Calif Dept Hlth Serv, Genet Dis Branch, Berkeley, CA 94704 USA

[5] Illinois Dept Publ Hlth, Div Hlth Assessment & Screening, Springfield, IL 62761 USA

来源：

GENETICS IN MEDICINE | 2002年 / 4卷 / 05期

关键词：

beta-globin; sickle cell disease; sickle cell anemia; population-based; newborn screening; blood spots;

D O I：

10.1097/00125817-200209000-00003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：328 / 335

页数：8

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