Familial immotile-cilia syndrome in English springer spaniel dogs.
Familial immotile-cilia syndrome in English springer spaniel dogs.
复制标题
英国史宾格犬家族性纤毛不动综合征。
DOI：
10.1002/ajmg.1320330303
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Lothrop,CD
中科院分区：
文献类型：
--
作者：
Edwards,DF;Kennedy,JR;Patton,CS;Toal,RL;Daniel,GB;Lothrop,CD
对实验室饲养的一群杂合子的英国斯普林格猎犬进行了研究，推测为常染色体隐性遗传性静止纤毛综合征(ICS)。被认为是ICS杂合子的狗之间的交配导致了22只幼崽，其中5只(3只雄性和2只雌性)是ICS纯合子。在五只受ICS影响的狗中，有四只患有慢性鼻炎和支气管肺炎。另一只狗有严重的鼻溢液，在10天后死亡。4只狗患有全内翻综合征，2只处于育龄的雄性无精子症。在研究睫毛功能的两只ICS犬中，体内没有粘液纤毛清除，体外纤毛搏动很少观察到，而且频率很低。扫描和透射电子显微镜显示，所有ICS犬的呼吸纤毛都有相同的损害，包括随机取向和部分外动力蛋白臂缺乏。患有ICS的五只狗中有四只侧脑室扩张。一只患有新生儿鼻炎和支气管炎、孤立点和侧脑室扩张的雌性幼崽被推定为ICS纯合子，但在没有呼吸纤毛缺陷的功能或结构确认的情况下死亡。提出了ICS纤毛缺陷和呼吸体征的常染色体隐性遗传模式。
A laboratory‐maintained colony of English springer spaniel dogs heterozygous for a putative autosomal recessive immotile‐cilia syndrome (ICS) has been studied. Matings between dogs thought to be heterozygous for ICS resulted in 22 pups, five (three males and two females) of which were homozygous for ICS. Four of the five ICS‐affected dogs had chronic rhinitis and bronchopneumonia. The other dog had a serious nasal discharge and died at 10 days. Four dogs had situs inversus totalis (Kartagener syndrome), and the two males of reproductive age were azoospermic. In the two ICS dogs studied for ciliary function, in vivo mucociliary clearance was absent, and in vitro ciliary beat was rarely observed and of low frequency. Scanning and transmission electron microscopy disclosed the same lesions in respiratory cilia from all dogs with ICS, including random orientation and partial outer dynein arm deficiency. Four of five dogs with ICS had dilated lateral ventricles. One female pup with neonatal rhinitis and bronchopneumonia, situs solitus, and dilated lateral ventricles was presumed to be homozygous for ICS, but died without functional or structural confirmation of defective respiratory cilia. An autosomal recessive mode of inheritance for the ciliary defects and respiratory signs of ICS in these dogs is proposed.