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 betas haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.
INTERETHNIC POLYMORPHISM OF THE BETA-GLOBIN GENE LOCUS-CONTROL REGION (LCR) IN SICKLE-CELL-ANEMIA PATIENTS
MOI, PAOLO;
1993-01-01
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 betas haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.
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