Abstract
Sequence polymorphisms within the 5′HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of a simple sequence repeat are observed in strong linkage disequilibrium with each of the five major βS haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.
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Périchon, B., Ragusa, A., Lapouméroulie, C. et al. Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients. Hum Genet 91, 464–468 (1993). https://doi.org/10.1007/BF00217773
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DOI: https://doi.org/10.1007/BF00217773