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

Bruno Périchon; Angela Ragusa; Claudine Lapouméroulie; Alain Romand; Paolo Moi; Tohru Ikuta; Dominique Labie; Jacques Elion; Rajagopal Krishnamoorthy

doi:10.1007/BF00217773

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

Bruno Périchon
, Angela Ragusa
, Claudine Lapouméroulie
, Alain Romand
, Paolo Moi
, Tohru Ikuta
, Dominique Labie
, Jacques Elion
, Rajagopal Krishnamoorthy

Research output: Contribution to journal › Article › peer-review

40 Scopus citations

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 β^S haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

Original language	English (US)
Pages (from-to)	464-468
Number of pages	5
Journal	Human Genetics
Volume	91
Issue number	5
DOIs	https://doi.org/10.1007/BF00217773
State	Published - Jun 1993
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/BF00217773

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title = "Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients",

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 βS haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.",

author = "Bruno P{\'e}richon and Angela Ragusa and Claudine Lapoum{\'e}roulie and Alain Romand and Paolo Moi and Tohru Ikuta and Dominique Labie and Jacques Elion and Rajagopal Krishnamoorthy",

year = "1993",

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journal = "Human Genetics",

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T1 - Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients

AU - Périchon, Bruno

AU - Ragusa, Angela

AU - Lapouméroulie, Claudine

AU - Romand, Alain

AU - Moi, Paolo

AU - Ikuta, Tohru

AU - Labie, Dominique

AU - Elion, Jacques

AU - Krishnamoorthy, Rajagopal

PY - 1993/6

Y1 - 1993/6

N2 - 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 βS haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

AB - 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 βS haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

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U2 - 10.1007/BF00217773

DO - 10.1007/BF00217773

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AN - SCOPUS:0027305601

SN - 0340-6717

VL - 91

SP - 464

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JO - Human Genetics

JF - Human Genetics

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ER -

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

Abstract

ASJC Scopus subject areas

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