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Inter-ethnic polymorphism of the beta-globin gene locus control region (LCR) in sickle-cell anemia patients
B Périchon1, A Ragusa, C Lapouméroulie
1INSERM U120, Hôpital Robert Debré, Paris, France.
Human Genetics
|June 1, 1993
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 beta s haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.