Sleigh M A
Eur J Respir Dis Suppl. 1983;127:157-61.
The several genetically-determined structural defects of cilia that cause ineffective mucociliary clearance in Kartagener's syndrome and related diseases (for which the group name Primary Ciliary Dyskinesia is thought most appropriate) are compared with structural defects of flagella of mutant Chlamydomonas, about which biochemical information is also available. This comparison suggests that the effective activity of several or many genes may be essential for formation of each of the major components of the ciliary axoneme, and that Primary Ciliary Dyskinesia may result if a patient is homozygous for ineffective genes at any one of these gene loci. However, the mutants often appear to be "leaky", with incomplete effects; in addition, structural abnormalities of human cilia are relatively common in apparently normal individuals. The relationship of axonemal defects to disorientation of ciliary bases is questioned and the possibility is raised that such disorientation may result from morphogenetic disturbances through infection rather than from genetic origins.
将导致卡塔格内综合征及相关疾病（对于这些疾病，“原发性纤毛运动障碍”这一统称被认为最为合适）中黏液纤毛清除功能无效的几种由基因决定的纤毛结构缺陷，与突变衣藻鞭毛的结构缺陷进行了比较，关于衣藻鞭毛的结构缺陷也有相关生化信息。这种比较表明，几个或许多基因的有效活性对于纤毛轴丝的每个主要成分的形成可能至关重要，并且如果患者在这些基因位点中的任何一个位点上对于无效基因是纯合的，可能会导致原发性纤毛运动障碍。然而，这些突变体通常似乎是“渗漏性的”，具有不完全的效应；此外，在明显正常的个体中，人类纤毛的结构异常相对常见。有人对轴丝缺陷与纤毛基部方向异常之间的关系提出质疑，并提出这种方向异常可能是由感染引起的形态发生紊乱导致的，而非源于遗传因素。
