Wajcman H, Drupt F, Henthorn J S, Kister J, Prehu C, Riou J, Promé D, Galactéros F
INSERM U 468 and Department of Biochemistry Hôpital Henri Mondor AP-HP, Créteil, France.
Hemoglobin. 2000 May;24(2):125-32. doi: 10.3109/03630260009003431.
Hb Bushey, found in a Chinese baby and his father, is a new variant with a point mutation leading to the substitution Phe-->Leu at position beta122. Hb Casablanca, found in a family from Morocco, is a further example of a hemoglobin variant that carries two abnormalities in the same chain; the first is identical to that of Hb Bushey and the second to that of Hb J-Antakya [beta65 (E9)Lys-->Met]. Structural abnormalities of both Hbs were determined by protein chemistry methods including electrospray and tandem mass spectrometry. Their stability and oxygen binding properties were found to be identical to those of Hb A. Various mechanisms that may lead to two point mutations in the same chain are reviewed briefly.
在中国一名婴儿及其父亲体内发现的Hb Bushey是一种新的变体，存在一个点突变，导致β122位的苯丙氨酸（Phe）被亮氨酸（Leu）取代。在一个来自摩洛哥的家庭中发现的Hb Casablanca是血红蛋白变体的另一个例子，该变体在同一条链上存在两种异常；第一种与Hb Bushey相同，第二种与Hb J - 安塔基亚相同[β65（E9）赖氨酸（Lys）被甲硫氨酸（Met）取代]。通过包括电喷雾和串联质谱在内的蛋白质化学方法确定了这两种血红蛋白的结构异常。发现它们的稳定性和氧结合特性与Hb A相同。简要回顾了可能导致同一条链上出现两个点突变的各种机制。
