血红蛋白格雷迪：由于残基插入导致链延长的变体的首个实例。
Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.
作者信息
Huisman T H, Wilson J B, Gravely M, Hubbard M
出版信息
Proc Natl Acad Sci U S A. 1974 Aug;71(8):3270-3. doi: 10.1073/pnas.71.8.3270.
Abstract
A black 25-year-old woman and her father have a fast-moving alpha chain variant in an amount of 8% (the father) and 18% (the daughter). Structural data indicate that this chain has been elongated by the addition of three amino-acid residues to give the sequence: -Pro(114)-Ala(115)-Glu(116)-Phe(117)-Thr(118)-Glu-Phe-Thr-Pro(119)-Ala(120)-. The underlying genetic alteration responsible for hemoglobin Grady appears, therefore, to be a tandem duplication of nine base pairs which may have arisen by a process of mismatched intragenic crossing over. Functional and physicochemical properties of the variant are not greatly altered, and hematological data are normal.
摘要
一名25岁的黑人女性及其父亲有一种快速移动的α链变体，含量分别为8%（父亲）和18%（女儿）。结构数据表明，该链因添加了三个氨基酸残基而延长，序列为：-脯氨酸（114）-丙氨酸（115）-谷氨酸（116）-苯丙氨酸（117）-苏氨酸（118）-谷氨酸-苯丙氨酸-苏氨酸-脯氨酸（119）-丙氨酸（120）-。因此，导致血红蛋白格雷迪的潜在基因改变似乎是九个碱基对的串联重复，这可能是由基因内错配交叉过程产生的。该变体的功能和物理化学性质没有太大改变，血液学数据正常。
相似文献
1
Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.血红蛋白格雷迪：由于残基插入导致链延长的变体的首个实例。
Proc Natl Acad Sci U S A. 1974 Aug;71(8):3270-3. doi: 10.1073/pnas.71.8.3270.
2
Interaction of hemoglobin E with other abnormal hemoglobins.血红蛋白E与其他异常血红蛋白的相互作用。
Acta Haematol. 2011;126(4):246-8. doi: 10.1159/000329904. Epub 2011 Oct 4.
3
Hb Yaoundé [beta134(H12)Val-->Ala], a new neutral variant found in association with Hb Kenitra.
Hemoglobin. 2001 Feb;25(1):97-101. doi: 10.1081/hem-100103074.
4
Duplicated alpha-chain genes in Hopkins-2 haemoglobin of man and evidence for unequal crossing over between them.
Nat New Biol. 1972 May 17;237(72):90-4. doi: 10.1038/newbio237090a0.
5
6
Hemoglobin Cranston, an unstable variant having an elongated beta chain due to nonhomologous crossover between two normal beta chain genes.克兰斯顿血红蛋白，一种不稳定的变体，由于两个正常β链基因之间的非同源交叉而具有延长的β链。
Proc Natl Acad Sci U S A. 1975 Sep;72(9):3609-13. doi: 10.1073/pnas.72.9.3609.
7
Complex interaction of hemoglobin (Hb) Nakhon Ratchasima [α63(E12)Ala→Val], a novel α2-globin chain variant with Hb E [β26(B8)Glu→Lys] and a deletional α(+)-thalassemia.血红蛋白（Hb）纳空叻差是玛哈沙拉堪变异[α63（E12）Ala→Val]，一种新型的与血红蛋白 E [β26（B8）Glu→Lys]复合的α2-珠蛋白链变异体，同时还伴有缺失型α(+)-地贫。
Eur J Haematol. 2011 Jul;87(1):68-72. doi: 10.1111/j.1600-0609.2011.01616.x.
8
[Lepore hemoglobin. Theory of the regulation of the synthesis of Lepore and anti-Lepore chains].
Nouv Rev Fr Hematol. 1972 Sep-Oct;12(5):595-607.
9
Hereditary persistence of foetal haemoglobin associated with a gamma beta fusion variant, haemoglobin Kenya.与γβ融合变异体血红蛋白肯尼亚相关的胎儿血红蛋白遗传性持续存在。
Nat New Biol. 1973 Dec 12;246(154):184-6. doi: 10.1038/newbio246184a0.
10
Hemoglobin J Toronto: alpha 2-5 Ala-Asp-beta 2.血红蛋白J多伦多：α2-5丙氨酸-天冬氨酸-β2
Clin Biochem. 1971 Oct;4(3):137-40. doi: 10.1016/s0009-9120(71)91128-3.
引用本文的文献
1
Hemoglobin Einstein: semisynthetic deletion in the B-helix of the alpha-chain.血红蛋白爱因斯坦：α链B螺旋中的半合成缺失
Protein Sci. 2004 May;13(5):1266-75. doi: 10.1110/ps.03567804.
2
The Atlanta family with hemoglobin Grady revisited.
Am J Hum Genet. 1983 Nov;35(6):1314-6.
3
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.
4
The molecular basis of hemoglobin Grady.血红蛋白格雷迪的分子基础。
Am J Hum Genet. 1981 Jan;33(1):129-33.
5
Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.
Hum Genet. 1992 Aug;89(6):676-80. doi: 10.1007/BF00221961.
6
Hb Grady and alpha thalassemia: a contribution to the problem of the number of Hb alpha structural loci in man.血红蛋白格雷迪与α地中海贫血：对人类血红蛋白α结构基因座数量问题的一项贡献。
Am J Hum Genet. 1976 Jul;28(4):363-9.
7
Hemoglobin Lincoln Park: a betadelta fusion (anti-Lepore) variant with an amino acid deletion in the delta chain-derived segment.血红蛋白林肯公园：一种βδ融合（抗Lepore）变体，在δ链衍生片段中有一个氨基酸缺失。
Proc Natl Acad Sci U S A. 1978 Mar;75(3):1475-9. doi: 10.1073/pnas.75.3.1475.
本文引用的文献
1
EFFECT OF IRON-DEFICIENCY ANAEMIA ON THE METABOLISM OF THE HETEROGENIC HAEMOGLOBINS IN SICKLE CELL TRAIT.缺铁性贫血对镰状细胞性状中异源血红蛋白代谢的影响。
Nature. 1964 May 2;202:499-501. doi: 10.1038/202499a0.
2
3
Estimation of small percentages of foetal haemoglobin.微量胎儿血红蛋白的测定。
Nature. 1959 Dec 12;184(Suppl 24):1877-8. doi: 10.1038/1841877a0.
4
Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding.血红蛋白冈希尔：五个氨基酸残基缺失及血红素-珠蛋白结合受损。
Science. 1967 Sep 29;157(3796):1581-3. doi: 10.1126/science.157.3796.1581.
5
Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).异常人类血红蛋白。通过色谱法分离和鉴定α链和β链，并测定两种新变体，即血红蛋白切萨皮克和血红蛋白J（曼谷）。
J Mol Biol. 1966 Aug;19(1):91-108. doi: 10.1016/s0022-2836(66)80052-9.
6
Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.弗赖堡血红蛋白：因单个氨基酸残基缺失导致的异常血红蛋白。
Science. 1966 Nov 25;154(3752):1024-7. doi: 10.1126/science.154.3752.1024.
7
Studies on the heterogeneity of hemoglobin. IX. The use of Tris(hydroxymethyl)aminomethanehcl buffers in the anion-exchange chromatography of hemoglobins.血红蛋白异质性的研究。IX. 三（羟甲基）氨基甲烷盐酸盐缓冲液在血红蛋白阴离子交换色谱中的应用。
J Chromatogr. 1965 Jul;19(1):160-9. doi: 10.1016/s0021-9673(01)99434-8.
8
Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid.血红蛋白莱顿：β链第6或7位谷氨酸缺失。
Nature. 1968 Nov 23;220(5169):788-90. doi: 10.1038/220788a0.
9
Studies on the heterogeneity of hemoglobin. 13. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex.血红蛋白异质性研究。13. 不同人类和动物血红蛋白类型在二乙氨基乙基葡聚糖凝胶（DEAE - Sephadex）上的色谱分析。
J Chromatogr. 1968 Feb 20;32(4):723-7. doi: 10.1016/s0021-9673(01)80551-3.
10
An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease.一种不寻常的血红蛋白异常及其与α地中海贫血和血红蛋白H病的关系。
J Clin Invest. 1971 Aug;50(8):1628-36. doi: 10.1172/JCI106651.
Zotero 插件