Wimer B M, Marsh W L, Taswell H F, Galey W R
Br J Haematol. 1977 Jun;36(2):219-24. doi: 10.1111/j.1365-2141.1977.tb00642.x.
The McLeod phenotype is inherited as an X-linked characteristic. The red cells have weak antigenicity in the Kell blood group and lack Kx, a precursor-like substance that appears to be necessary for proper biosynthesis of Kell antigens. Kx antigen is also required for establishment of normal cell morphology. Absence of Kx antigen causes a membrane abnormality, in which the most prominent feature is acanthocytosis, and a compensated haemolytic state. The X-linked gene that determines normal Kx production is called X1k. Inheritance of a variant allele at the Xk locus is responsible for lack of Kx synthesis and the McLeod phenotype. The Xk locus is inactivated by the Lyon effect, and female carriers of the variant gene exhibit blood group mosaicism in the Kell system and have a dual red cell population of acanthocytes and discocytes.
麦克劳德表型作为一种X连锁性状遗传。红细胞在凯尔血型系统中抗原性较弱，且缺乏Kx，Kx是一种前体样物质，似乎是凯尔抗原正常生物合成所必需的。正常细胞形态的建立也需要Kx抗原。Kx抗原的缺失会导致膜异常，其中最突出的特征是棘红细胞增多症，以及一种代偿性溶血状态。决定正常Kx产生的X连锁基因称为X1k。Xk基因座上变异等位基因的遗传导致Kx合成缺乏和麦克劳德表型。Xk基因座因莱昂效应而失活，变异基因的女性携带者在凯尔系统中表现出血型嵌合现象，并且有棘红细胞和双凹圆盘状红细胞的双重红细胞群体。
