血红蛋白K伍尔维奇：对一名纯合子家族的研究。
Haemoglobin K Woolwich: a study of the family of a homozygote.
作者信息
Cabannes R, Amegnizin P, Sangare A, Arne D, Casey R, Lehmann H
出版信息
J Med Genet. 1980 Jun;17(3):183-6. doi: 10.1136/jmg.17.3.183.
Abstract
A family is described in which the proband is homozygous and several relatives are heterozygous for Hb K Woolwich (beta 130 [H10] Lys leads to Gln). These people are clinically and haematologically normal. The relationship between the presence of Hb K Woolwich and beta +-thalassaemia is discussed. The distribution of Hb K Woolwich in West Africa is discussed and it is seen to be closely associated with the Akan group.
摘要
本文描述了一个家系，其中先证者为Hb K伍尔维奇纯合子，数名亲属为杂合子（β130[H10]赖氨酸突变为谷氨酰胺）。这些人在临床和血液学上均正常。文中讨论了Hb K伍尔维奇的存在与β+-地中海贫血之间的关系。还讨论了Hb K伍尔维奇在西非的分布情况，发现它与阿坎族群密切相关。
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本文引用的文献
1
2
SICKLE-CELL HAEMOGLOBIN K DISEASE.镰状细胞血红蛋白K病
Br Med J. 1963 Nov 30;2(5369):1381-2. doi: 10.1136/bmj.2.5369.1381.
3
A new technique for differentiation of hemoglobin.一种鉴别血红蛋白的新技术。
J Lab Clin Med. 1957 Nov;50(5):745-52.
4
Solubilities of naturally occurring mixtures of human hemoglobin.人血红蛋白天然混合物的溶解度。
Arch Biochem Biophys. 1953 Nov;47(1):148-59. doi: 10.1016/0003-9861(53)90444-5.
5
Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A.血红蛋白哥本哈根和血红蛋白剑桥。两种新的血红蛋白A的β链变体。
Biochim Biophys Acta. 1967 Jun 27;140(2):231-42. doi: 10.1016/0005-2795(67)90463-1.
6
On the mechanism of the dissociation of haemoglobin.关于血红蛋白解离的机制
J Mol Biol. 1967 Apr 28;25(2):253-73. doi: 10.1016/0022-2836(67)90141-6.
7
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.
8
Rapid electrophoresis and quantitation of haemoglobins on cellulose acetate.醋酸纤维素上血红蛋白的快速电泳及定量分析
J Clin Pathol. 1965 Nov;18(6):790-2. doi: 10.1136/jcp.18.6.790.
9
Haemoglobin K Woolwich (alpha 2, beta 2 132 lysine leads to glutamine) in Ghana.加纳的血红蛋白K伍尔维奇（α2，β2 132位赖氨酸突变为谷氨酰胺）
Acta Haematol. 1971;45(4):250-8. doi: 10.1159/000208632.
10
Hb K Woolwich the cause of a thalassaemia.血红蛋白K伍尔维奇型地中海贫血的病因
Nature. 1974 May 31;249(456):467-9. doi: 10.1038/249467a0.
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