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胎儿血红蛋白遗传性持续存在的纯合子:Gγ与Aγ链的比例及生物合成研究

Homozygotes for the hereditary persistence of fetal hemoglobin: the ratio of G gamma to A gamma chains and biosynthetic studies.

作者信息

Ringelhann B, Acquaye C T, Oldham J H, Konotey-Ahulu F I, Yawson G, Sukumaran P K, Schroeder W A, Huisman T H

出版信息

Biochem Genet. 1977 Dec;15(11-12):1083-96. doi: 10.1007/BF00484499.

DOI:10.1007/BF00484499
PMID:603615
Abstract

Two sons of a previously reported Ghanaian homozygote for the hereditary persistence of fetal hemoglobin (HPFH) (Ringelhann et al., 1970) also are HPFH homozygotes. In addition, another unrelated adult Ghanaian homozygote has been detected. All of these Ghanaian homozygotes as well as three American Black HPFH homozygotes have the G gamma A gamma type of HPFH with a G gamma to A gamma ratio of about 3:2, in contrast to an Asiatic Indian homozygote who has the G gamma type. Globin chain synthesis in HPFH homozygotes is unbalanced, with a gamma/alpha ratio of 0.6 or less, whereas it is balanced in heterozygotes according to most reports.

摘要

先前报道的一位患有胎儿血红蛋白遗传性持续存在(HPFH)的加纳纯合子(Ringelhann等人,1970年)的两个儿子也是HPFH纯合子。此外,还检测到另一位不相关的成年加纳HPFH纯合子。所有这些加纳纯合子以及三位美国黑人HPFH纯合子都具有GγAγ型HPFH,Gγ与Aγ的比例约为3:2,这与具有Gγ型的亚洲印度纯合子形成对比。HPFH纯合子中的珠蛋白链合成不平衡,γ/α比例为0.6或更低,而根据大多数报道,杂合子中的珠蛋白链合成是平衡的。

相似文献

1
Homozygotes for the hereditary persistence of fetal hemoglobin: the ratio of G gamma to A gamma chains and biosynthetic studies.胎儿血红蛋白遗传性持续存在的纯合子:Gγ与Aγ链的比例及生物合成研究
Biochem Genet. 1977 Dec;15(11-12):1083-96. doi: 10.1007/BF00484499.
2
Variations in globin chain synthesis in hereditary persistence of fetal haemoglobin.胎儿血红蛋白遗传性持续存在时珠蛋白链合成的变化
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3
The British type of non-deletion HPFH: characterization of developmental changes in vivo and erythroid growth in vitro.英国型非缺失性遗传性胎儿血红蛋白持续存在症:体内发育变化及体外红系生长特征
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The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin.G至A--117Aγ纯合状态导致胎儿血红蛋白遗传性持续存在。
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Greek (A gamma) variant of hereditary persistence of fetal haemoglobin: globin gene organization and studies of expression of fetal haemoglobins in clonal erythroid cultures.胎儿血红蛋白遗传性持续存在的希腊(Aγ)变体:珠蛋白基因组织及克隆红系培养物中胎儿血红蛋白表达的研究
Br J Haematol. 1982 Mar;50(3):387-99. doi: 10.1111/j.1365-2141.1982.tb01934.x.
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Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain.三种类型胎儿血红蛋白遗传性持续存在的分子基础异质性以及γ链的Gγ和Aγ类型的相对合成
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Occurrence of G gamma Hb F in Greek HPFH: analysis of heterozygotes and compound heterozygotes with beta thalassaemia.希腊遗传性胎儿血红蛋白持续存在症中Gγ血红蛋白F的出现:β地中海贫血杂合子和复合杂合子的分析
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G gamma A gamma (beta+) hereditary persistence of fetal hemoglobin: the G gamma -158 C-->T mutation in cis to the -175 T-->C mutation of the A gamma-globin gene results in increased G gamma-globin synthesis.GγAγ(β+)胎儿血红蛋白遗传性持续存在:Gγ-珠蛋白基因-175 T→C突变顺式的-158 C→T突变导致Gγ-珠蛋白合成增加。
Am J Hematol. 1993 Feb;42(2):186-90. doi: 10.1002/ajh.2830420209.
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A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait.黑人胎儿血红蛋白遗传性持续存在的一种新形式及其与镰状细胞性状的关联。
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Hereditary persistence of fetal hemoglobin.胎儿血红蛋白遗传性持续存在。
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本文引用的文献

1
The homozygous state of persistent fetal hemoglobin and the interaction of persistent fetal hemoglobin with thalassemia.持续性胎儿血红蛋白的纯合状态以及持续性胎儿血红蛋白与地中海贫血的相互作用。
Bull Johns Hopkins Hosp. 1961 Nov;109:217-33.
2
Hereditary persistence of fetal hemoglobin. Heterogeneity of fetal hemoglobin in homozygotes and in conjunction with -thalassemia.胎儿血红蛋白遗传性持续存在。纯合子及合并β地中海贫血时胎儿血红蛋白的异质性。
N Engl J Med. 1971 Sep 23;285(13):711-6. doi: 10.1056/NEJM197109232851303.
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An adult homozygous for persistent fetal hemoglobin.
调控发育性γ-珠蛋白基因表达:治疗血红蛋白病的一种方法。
Mol Cell Biol. 2020 Dec 21;41(1). doi: 10.1128/MCB.00253-20.
4
Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and β-thalassemia.使用CRISPR-Cas9进行基因组编辑以在造血干细胞中创建HPFH基因型:一种治疗镰状细胞病和β地中海贫血的方法。
Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):10661-5. doi: 10.1073/pnas.1612075113. Epub 2016 Sep 6.
5
Clinical genetics: ghanaian gratitude for british and hungarian contributions: a personalized historical perspective.临床遗传学:加纳人对英国和匈牙利贡献的感激之情:一个个性化的历史视角
Ghana Med J. 2009 Dec;43(4):175-8.
6
Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain.三种类型胎儿血红蛋白遗传性持续存在的分子基础异质性以及γ链的Gγ和Aγ类型的相对合成
Biochem Genet. 1984 Feb;22(1-2):21-35. doi: 10.1007/BF00499284.
7
G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C.与血红蛋白C相关的胎儿血红蛋白遗传性持续存在的Gγβ+型
J Med Genet. 1979 Aug;16(4):288-95. doi: 10.1136/jmg.16.4.288.
一名成人胎儿血红蛋白持续存在纯合子。
Ann Intern Med. 1970 Apr;72(4):533-6. doi: 10.7326/0003-4819-72-4-533.
4
Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin.人类胎儿血红蛋白γ链存在多个结构基因的证据。
Proc Natl Acad Sci U S A. 1968 Jun;60(2):537-44. doi: 10.1073/pnas.60.2.537.
5
Nature of foetal haemoglobin in F-thalassaemia.F地中海贫血中胎儿血红蛋白的性质
Br J Haematol. 1971 Dec;21(6):633-42. doi: 10.1111/j.1365-2141.1971.tb02726.x.
6
A homozygote for the Hb G type of foetal haemoglobin in India: a study of two Indian and four Negro families.印度一名胎儿血红蛋白Hb G类型的纯合子:对两个印度家庭和四个黑人家庭的研究。
Br J Haematol. 1972 Oct;23(4):403-17. doi: 10.1111/j.1365-2141.1972.tb07075.x.
7
A Ghanaian adult, homozygous for hereditary persistence of foetal haemoglobin and heterozygous for elliptocytosis.一名加纳成年人,胎儿血红蛋白遗传性持续纯合,椭圆形红细胞增多症杂合。
Acta Haematol. 1970;43(2):100-10. doi: 10.1159/000208719.
8
Hemoglobin Richmond, a human hemoglobin which forms asymmetric hybrids with other hemoglobins.里士满血红蛋白,一种能与其他血红蛋白形成不对称杂合体的人类血红蛋白。
J Biol Chem. 1969 Nov 25;244(22):6105-16.
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Balanced globin chain synthesis in hereditary persistence of fetal hemoglobin.胎儿血红蛋白遗传性持续存在中的平衡珠蛋白链合成。
J Clin Invest. 1974 Aug;54(2):433-8. doi: 10.1172/JCI107779.
10
Beta-thalassemia in the American Negro.美国黑人中的β地中海贫血
J Clin Invest. 1973 Jun;52(6):1453-9. doi: 10.1172/JCI107319.