Marsh W L, Schnipper E F, Johnson C L, Mueller K A, Schwartz S A
Transfusion. 1983 Jul-Aug;23(4):336-8. doi: 10.1046/j.1537-2995.1983.23483276871.x.
McLeod syndrome is an X-linked condition in which individuals of McLeod blood group phenotype have weak Kell antigens, acanthocytic red cells, and a muscular disorder. We now report a family in which two brothers have McLeod syndrome. One is K:-1, while the other is the first known K:1 person with McLeod syndrome. The K1 gene in the latter is expressed weakly and was inherited from the father, in whom it is expressed normally. The brothers have the same clinical and laboratory manifestations of McLeod syndrome but have different Kell genes. Therefore, the Kell gene is unlikely to have any positive input into development of McLeod syndrome; its role is one of passive involvement in which its expression is modified.
麦克劳德综合征是一种X连锁疾病，具有麦克劳德血型表型的个体存在弱凯尔抗原、棘红细胞和肌肉疾病。我们现在报告一个家族，其中两兄弟患有麦克劳德综合征。一个是K:-1，而另一个是已知的首例患有麦克劳德综合征的K:1个体。后者的K1基因表达较弱，且从其父亲那里遗传而来，而其父亲的该基因表达正常。这两兄弟具有相同的麦克劳德综合征临床和实验室表现，但凯尔基因不同。因此，凯尔基因不太可能对麦克劳德综合征的发展有任何积极作用；其作用是被动参与，其表达被改变。
