Literature DB >> 8314558

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

B Périchon1, A Ragusa, C Lapouméroulie, A Romand, P Moi, T Ikuta, D Labie, J Elion, R Krishnamoorthy.   

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.

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Year:  1993        PMID： 8314558     DOI： 10.1007/bf00217773

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  A DNA-binding factor in adult hematopoietic cells interacts with a pyrimidine-rich domain upstream from the human delta-globin gene.

Authors:  D O'Neill; K Bornschlegel; M Flamm; M Castle; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-15       Impact factor: 11.205

2.  Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice.

Authors:  T Enver; N Raich; A J Ebens; T Papayannopoulou; F Costantini; G Stamatoyannopoulos
Journal:  Nature       Date:  1990-03-22       Impact factor: 49.962

3.  The "beta-like-globin" gene domain in human erythroid cells.

Authors:  D Tuan; W Solomon; Q Li; I M London
Journal:  Proc Natl Acad Sci U S A       Date:  1985-10       Impact factor: 11.205

Review 4.  The chemistry and biology of unusual DNA structures adopted by oligopurine.oligopyrimidine sequences.

Authors:  R D Wells; D A Collier; J C Hanvey; M Shimizu; F Wohlrab
Journal:  FASEB J       Date:  1988-11       Impact factor: 5.191

5.  Human gamma-globin genes silenced independently of other genes in the beta-globin locus.

Authors:  N Dillon; F Grosveld
Journal:  Nature       Date:  1991-03-21       Impact factor: 49.962

6.  Sequence variations in the 5' hypersensitive site-2 of the locus control region of beta S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes.

Authors:  C Oner; A J Dimovski; C Altay; A Gurgey; Y C Gu; T H Huisman; K D Lanclos
Journal:  Blood       Date:  1992-02-01       Impact factor: 22.113

7.  In vivo protein-DNA interactions at the beta-globin gene locus.

Authors:  T Ikuta; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1991-11-15       Impact factor: 11.205

8.  DNA sequence variation in a negative control region 5' to the beta-globin gene correlates with the phenotypic expression of the beta s mutation.

Authors:  J Elion; P E Berg; C Lapouméroulie; G Trabuchet; M Mittelman; R Krishnamoorthy; A N Schechter; D Labie
Journal:  Blood       Date:  1992-02-01       Impact factor: 22.113

9.  Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow.

Authors:  A Ragusa; M Lombardo; G Sortino; T Lombardo; R L Nagel; D Labie
Journal:  Am J Hematol       Date:  1988-02       Impact factor: 10.047

10.  Position-independent, high-level expression of the human beta-globin gene in transgenic mice.

Authors:  F Grosveld; G B van Assendelft; D R Greaves; G Kollias
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582
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  4 in total

1.  Contribution of β-globin cluster polymorphisms to raise fetal hemoglobin levels in normal adults.

Authors:  Latifa Jouini; Amina Bibi; Faida Ouali; Sondess Hadj Fredj; Fekria Ouennich; Hajer Siala; Taieb Messaoud; Slaheddine Fattoum
Journal:  Mol Biol Rep       Date:  2011-09-27       Impact factor: 2.316

2.  A novel mosaic Bantu/Benin/Bantu beta s haplotype found in several African populations.

Authors:  I Gonçalves; J Gonçalves; B Périchon; L Osório-Almeida; R Krishnamoorthy; J Lavinha
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

3.  Fetal Hemoglobin in Tunisian Sickle Cell Disease Patient: Relationship with Polymorphic Sequences Cis to the β-Globin Gene.

Authors:  Imen Moumni; Maha Ben Mustapha; Ikbel Ben Mansour; Amine Zoraï; Kaïs Douzi; Sarah Sassi; Dorra Chaouachi; Fethi Mellouli; Mohamed Bejaoui; Salem Abbes
Journal:  Indian J Hematol Blood Transfus       Date:  2015-01-23       Impact factor: 0.900

4.  Haplotype map of sickle cell anemia in Tunisia.

Authors:  Imen Moumni; Maha Ben Mustapha; Sarra Sassi; Amine Zorai; Ikbel Ben Mansour; Kais Douzi; Dorra Chouachi; Fethi Mellouli; Mohamed Bejaoui; Salem Abbes
Journal:  Dis Markers       Date:  2014-07-02       Impact factor: 3.434
  4 in total

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