胎儿血红蛋白遗传性持续存在和δβ0地中海贫血中Aγ-珠蛋白启动子的突变 - Suppr

Mutations in the A gamma-globin promoter in hereditary persistence of fetal hemoglobin and delta beta zero-thalassemia.

作者信息

Ottolenghi S, Giglioni B, Comi P, Mantovani R, Malgaretti N, Nicolis S, Longinotti M, Sciarratta G V, Pirastu M, Camaschella C

机构信息

Dipartimento di Genetica e di Biologia dei Microrganismi, Università di Milano.

出版信息

Prog Clin Biol Res. 1987;251:373-82.

PMID:2448807

Abstract

摘要

相似文献

Mutations in the A gamma-globin promoter in hereditary persistence of fetal hemoglobin and delta beta zero-thalassemia.

Prog Clin Biol Res. 1987;251:373-82.

Delta beta thalassemia and hereditary persistence of fetal hemoglobin.

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Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia.

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A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex.

Prog Clin Biol Res. 1989;316B:97-111.

G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.

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delta beta-Thalassemia and HPFH.

Birth Defects Orig Artic Ser. 1982;18(7):65-7.

Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?

Proc Natl Acad Sci U S A. 1982 Apr;79(7):2347-51. doi: 10.1073/pnas.79.7.2347.

Hemoglobin Bart's disease in an Italian boy. Interaction between alpha-thalassemia and hereditary persistence of fetal hemoglobin.

N Engl J Med. 1990 Jul 19;323(3):179-82. doi: 10.1056/NEJM199007193230307.

Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia.

J Clin Invest. 1979 Sep;64(3):866-9. doi: 10.1172/JCI109535.

Support for the causal relationship between gamma globin gene promoter mutations and nondeletion forms of hereditary persistence of fetal hemoglobin.

Prog Clin Biol Res. 1987;251:347-61.

引用本文的文献

An erythroid specific nuclear factor binding to the proximal CACCC box of the beta-globin gene promoter.

Nucleic Acids Res. 1988 May 25;16(10):4299-313. doi: 10.1093/nar/16.10.4299.

Increased erythroid-specific expression of a mutated HPFH gamma-globin promoter requires the erythroid factor NFE-1.

Nucleic Acids Res. 1989 Jul 25;17(14):5509-16. doi: 10.1093/nar/17.14.5509.

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Mutations in the A gamma-globin promoter in hereditary persistence of fetal hemoglobin and delta beta zero-thalassemia.

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