Inter-ethnic polymorphism of the ?-globin gene locus control region (LCR) in sickle-cell anemia patients

• DOI: 10.1007/bf00217773
• Publication Date: 2004-09-17T22:28:05Z
• Authors: Bruno P�richon; Angela Ragusa; Claudine Lapoum�r...; Alain Romand; Paolo Moi; Tohru Ikuta; Dominique Labie; Jacques Elion; Rajagopal Krishna...
• Keywords: 0301 basic medicine; Polymorphism, Genetic; Base Sequence; Molecular Sequence Data; Black People; India; Anemia, Sickle Cell; Sequence Analysis, DNA; Regulatory Sequences, Nucleic Acid; Polymerase Chain Reaction; Linkage Disequilibrium; Senegal; Globins; 3. Good health; Central African Republic; 03 medical and health sciences; Haplotypes; Algeria; Benin; Humans; Nucleic Acid Conformation; Cameroon; Repetitive Sequences, Nucleic Acid

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.