古巴家族中发现的血红蛋白布加勒斯特新病例：进一步的功能研究。
A new case of haemoglobin Bucuresti in a Cuban family: further functional studies.
作者信息
Colombe B, Benitez M P, Bernini L, Elien J, Wajeman H, Labie D
出版信息
J Med Genet. 1975 Sep;12(3):297-8. doi: 10.1136/jmg.12.3.297.
Abstract
A new case of haemoglobin Bucuresti beta 42 (CD1) Phe yields Leu is described in a Cuban family. The functional studies confirm the results already described--a low oxygen affinity and a decreased haem-haem interaction. In addition to this, the reactivity for 2, 3 diphosphoglycerate (2, 3 DPG) was shown to be normal. The instability is mostly due to a fast rate of haemichromes formation.
摘要
在一个古巴家庭中描述了一例新的血红蛋白布加勒斯特β42（CD1）苯丙氨酸突变为亮氨酸的病例。功能研究证实了已报道的结果——低氧亲和力和血红素-血红素相互作用减弱。除此之外，该血红蛋白对2,3-二磷酸甘油酸（2,3-DPG）的反应性显示正常。其不稳定性主要归因于高铁血红素形成速率较快。
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