Inter-ethnic polymorphism of the beta-globin gene locus control region (LCR) in sickle-cell anemia patients.
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.
Périchon
B
B
INSERM U120, Hôpital Robert Debré, Paris, France.
Ragusa
A
A
Lapouméroulie
C
C
Romand
A
A
Moi
P
P
Ikuta
T
T
Labie
D
D
Elion
J
J
Krishnamoorthy
R
R
D000462:Algeria; D000755:Anemia, Sickle Cell / Q000208:ethnology* / Q000235:genetics*; D001483:Base Sequence; D001541:Benin; D044383:Black People / Q000235:genetics*; D002163:Cameroon; D002488:Central African Republic; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012045:Regulatory Sequences, Nucleic Acid; D012091:Repetitive Sequences, Nucleic Acid; D012675:Senegal; D017422:Sequence Analysis, DNA; D012802:Sicily
D005914:Globins