|
|
 Previous Article | Table of Contents | Next Article 
Variation in hemoglobin F production among normal and sickle cell adults is
not related to nucleotide substitutions in the gamma promoter regions
EP Economou, SE Antonarakis, HH Kazazian , GR Serjeant and GJ Dover
Department of Pediatrics, Johns Hopkins University School of Medicine,
Baltimore, MD 21205.
Single nucleotide substitutions in the promoter regions of the A gamma- and
G gamma-globin genes have been associated with increased fetal hemoglobin
(HbF) production. We wished to determine whether these or other
unrecognized substitutions in the gamma promoter regions are responsible
for the 20-fold variation in HbF production in sickle cell patients or
normal adults. From a random sampling of 250 sickle cell (SS) patients and
125 normal adults, 17 individuals representing the highest and lowest HbF
producers were selected for study. All three common restriction fragment
length polymorphism beta-globin region haplotypes (Benin, Central African
Republic, and Senegal) were found in both the highest and lowest HbF
producers with SS disease. Using the polymerase chain reaction
amplification and direct sequencing of the amplified DNA product, we
examined the promoter regions of both the A gamma and G gamma genes from
-350 bp to +50 bp of the CAP site. No mutations were found in either gamma
gene promoter region. We conclude that nucleotide substitutions in the
promoter regions (-350 to +50 bp) of both gamma genes are not responsible
for the marked variation in HbF production among SS or normal individuals.
Volume 77,
Issue 1,
pp. 174-177,
01/01/1991
Copyright © 1991 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
J. Vadolas, H. Wardan, M. Orford, L. Voullaire, F. Zaibak, R. Williamson, and P. A. Ioannou
Development of sensitive fluorescent assays for embryonic and fetal hemoglobin inducers using the human beta -globin locus in erythropoietic cells
Blood,
December 1, 2002;
100(12):
4209 - 4216.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Garner, T. Tatu, J. E. Reittie, T. Littlewood, J. Darley, S. Cervino, M. Farrall, P. Kelly, T. D. Spector, and S. L. Thein
Genetic influences on F cells and other hematologic variables: a twin heritability study
Blood,
January 1, 2000;
95(1):
342 - 346.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. L. Holmes, J. D. Haley, L. Cerruti, W.-l. Zhou, H. Zogos, D. E. Smith, J. M. Cunningham, and S. M. Jane
Identification of Id2 as a Globin Regulatory Protein by Representational Difference Analysis of K562 Cells Induced To Express gamma -Globin with a Fungal Compound
Mol. Cell. Biol.,
June 1, 1999;
19(6):
4182 - 4190.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
