Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter
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چکیده
منابع مشابه
Promoter region sequence differences in the A and G gamma globin genes of Brazilian sickle cell anemia patients.
Fetal hemoglobin (HbF), encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their ...
متن کاملMolecular structure of the octamer d(G-G-C-C-G-G-C-C): modified A-DNA.
The deoxynucleotide fragment d(GpGpCpCpGpGpCpC) was synthesized and crystallized, and its three-dimensional structure was determined by x-ray diffraction techniques to a resolution of 2.25 A. The molecule forms a right-handed double helix in which the two base pairs at either end of the molecule are in the conventional A-DNA conformation, while the central four base pairs have a modified form i...
متن کاملThe -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin.
The Atlanta type of hereditary persistence of fetal hemoglobin (HPFH) is characterized by a mild elevation of Hb F (2% to 5% in heterozygotes), almost exclusively of the G gamma type (more than 90%). Gene-mapping analysis has identified this condition as a -G gamma-G gamma- arrangement with the -158 (C-->T) substitution in the promoters of both G gamma genes. We have reevaluated this condition ...
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DNA was isolated from the white cells of a subject with the Hb S-Kenya-G gamma-HPFH condition, and digested with the restriction endonucleases Bg1 II, Xba I, and Eco RI. The resulting fragments were identified by standard techniques using [32P] labelled probes which are specific for the second intervening sequences of the beta gene and the gamma genes, respectively. A comparison with data for n...
متن کاملFrequency of G-globin promoter -158 (C>T) Xmn I polymorphism in Denizli, Turkey
The effect of -158 (C>T) Xmn I polymorphism on expression of G-globin gene has been the subject of considerable interest. This study aims to determine the frequency of the G Xmn I polymorphism in thalassemia patients in Denizli province of Turkey. We studied Xmn I polymorphism in the DNA samples of 27 with -thalassemia major, 210 -thalassemia minor patients and 100 healthy subjects as the ...
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ژورنال
عنوان ژورنال: Blood
سال: 1988
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v71.3.815.815