遗传性胎儿血红蛋白持续增多症、δ（0）β（0）地中海贫血和血红蛋白 Lepore 病中的珠蛋白基因缺失。 - Suppr

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超能文献

Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease.

作者信息

Ottolenghi S, Giglioni B, Comi P, Gianni A M, Polli E, Acquaye C T, Oldham J H, Masera G

出版信息

Nature. 1979 Apr 12;278(5705):654-7. doi: 10.1038/278654a0.

DOI:10.1038/278654a0

PMID:450068

Abstract

摘要

相似文献

Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease.遗传性胎儿血红蛋白持续增多症、δ（0）β（0）地中海贫血和血红蛋白 Lepore 病中的珠蛋白基因缺失。

Nature. 1979 Apr 12;278(5705):654-7. doi: 10.1038/278654a0.

Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant.β-珠蛋白基因簇中两种不同疾病的相互作用与血红蛋白F产量增加相关：一种新型缺失型（G）γ+（（A）γδβ）（0）-地中海贫血和一种δ（0）-胎儿血红蛋白遗传性持续决定因素。

Blood. 1991 Feb 15;77(4):861-7.

Delta beta thalassemia and hereditary persistence of fetal hemoglobin.δ地中海贫血与胎儿血红蛋白遗传性持续存在

Hematol Oncol Clin North Am. 1991 Jun;5(3):399-422.

Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?δβ地中海贫血与胎儿血红蛋白DNA遗传性持续存在的分子比较：调控区域的证据？

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

delta beta-Thalassemia and HPFH.δβ地中海贫血和遗传性胎儿血红蛋白持续增多症

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

The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster.导致胎儿血红蛋白遗传性持续存在的大片段缺失断点位于远离β-珠蛋白基因簇的红系DNA结构域内。

Blood. 1989 Nov 1;74(6):2178-86.

(A gamma delta beta)0-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA.黑人中的（γδβ）0地中海贫血是由于34千碱基对的DNA缺失所致。

Br J Haematol. 1985 Feb;59(2):343-56. doi: 10.1111/j.1365-2141.1985.tb02999.x.

Linkage analysis of the hemoglobin F determinant(s) in an Australian hemoglobin Lepore (Boston) kindred.澳大利亚血红蛋白Lepore（波士顿型）家系中血红蛋白F决定簇的连锁分析。

Am J Hematol. 1993 May;43(1):37-43. doi: 10.1002/ajh.2830430109.

A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex.一种与β-珠蛋白基因复合体不连锁的非缺失型胎儿血红蛋白（HPFH）遗传性持续决定因素。

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

Hereditary persistence of fetal haemoglobin (HPFH) and delta beta thalassaemia.胎儿血红蛋白遗传性持续存在（HPFH）与δβ地中海贫血

Br J Haematol. 1979 Dec;43(4):509-20. doi: 10.1111/j.1365-2141.1979.tb03784.x.

引用本文的文献

Distinctive patterns of evolution of the δ-globin gene (HBD) in primates.灵长类动物中δ-珠蛋白基因（HBD）独特的进化模式。

PLoS One. 2015 Apr 8;10(4):e0123365. doi: 10.1371/journal.pone.0123365. eCollection 2015.

Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation.β-珠蛋白基因簇中的进化约束：δ-珠蛋白（HBD）基因座的纯化选择特征及其在发育基因调控中的作用。

Genome Biol Evol. 2013;5(3):559-71. doi: 10.1093/gbe/evt029.

Evidence for unequal crossing over within the mouse T/t complex.小鼠T/t复合体中不等交换的证据。

Proc Natl Acad Sci U S A. 1980 Oct;77(10):6077-80. doi: 10.1073/pnas.77.10.6077.

beta zero thalassemia in Sardinia is caused by a nonsense mutation.撒丁岛的β0地中海贫血是由一种无义突变引起的。

J Clin Invest. 1981 Oct;68(4):1012-7. doi: 10.1172/jci110323.

The thalassemias: molecular mechanisms of human genetic disease.地中海贫血：人类遗传疾病的分子机制

Am J Hum Genet. 1983 May;35(3):333-61.

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.撒丁岛δβ0地中海贫血中的β-珠蛋白基因在第39密码子处存在一个C→T无义突变。

EMBO J. 1984 Apr;3(4):785-7. doi: 10.1002/j.1460-2075.1984.tb01885.x.

Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.由整个β-珠蛋白基因簇新缺失引起的新生儿溶血病。

J Clin Invest. 1983 Aug;72(2):602-9. doi: 10.1172/JCI111008.

Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia.一种导致Gγ（δβ）⁰地中海贫血的新缺失的限制性图谱分析。

Nucleic Acids Res. 1981 Dec 21;9(24):6813-25. doi: 10.1093/nar/9.24.6813.

Structure and expression of a cloned beta o thalassaemic globin gene.一个克隆的β地中海贫血球蛋白基因的结构与表达

Nucleic Acids Res. 1981 Sep 11;9(17):4391-401. doi: 10.1093/nar/9.17.4391.

Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.导致δβ地中海贫血和胎儿血红蛋白遗传性持续存在的缺失的不同3'末端点：对人类γ珠蛋白基因表达调控的影响。

Proc Natl Acad Sci U S A. 1983 Nov;80(22):6937-41. doi: 10.1073/pnas.80.22.6937.

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