INTERETHNIC POLYMORPHISM OF THE BETA-GLOBIN GENE LOCUS-CONTROL REGION (LCR) IN SICKLE-CELL-ANEMIA PATIENTS

PERICHON B;RAGUSA A;LAPOUMEROULIE C;ROMAND A;MOI, PAOLO;IKUTA T;LABIE D;ELION J;KRISHNAMOORTHY R.

1993-01-01

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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.