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关于杂合子女性中单侧和双侧色盲的发病率

On the incidence of unilateral and bilateral colour blindness in heterozygous females.

作者信息

Feig K, Ropers H H

出版信息

Hum Genet. 1978 Apr 24;41(3):313-23. doi: 10.1007/BF00284765.

Abstract

In 303 mothers of colour-blind sons, both eyes were tested with pseudoisochromatic plates and with the anomaloscope. Two hundred thirty healthy normal and 56 colour-blind males served as controls. In good agreement with the expected proportion of homozygotes in our sample, 17 colour-blind mothers were detected. Eight others had difficulty reading pseudoisochromatic plates and were conspicuous at the anomaloscope. In these, both eyes were affected to a very similar, moderate degree. Monocular disturbances of colour vision were not observed in the entire series. Our data suggest that (1) in most (if not all) of the carriers with colour vision impairment, there is no complete lack of normal retina cones, and (2) the proportion of defective retina cones is remarkably similar in both eyes of individual heterozygotes. The latter observation may indicate that at the time of X-differentiation there is a common primordial cell pool for both retinas.

摘要

在303名色盲儿子的母亲中,双眼均用假同色图和检色镜进行了检测。230名健康正常男性和56名色盲男性作为对照。与我们样本中纯合子的预期比例高度一致,检测到17名色盲母亲。另外8名母亲在阅读假同色图时有困难,在检色镜检查中表现明显。在这些母亲中,双眼受到的影响程度非常相似,且为中度。在整个系列中未观察到单眼色觉障碍。我们的数据表明:(1)在大多数(如果不是全部)有色觉损害的携带者中,并非完全没有正常的视网膜视锥细胞;(2)在个体杂合子的双眼,有缺陷的视网膜视锥细胞比例非常相似。后一观察结果可能表明,在X染色体分化时,两个视网膜有一个共同的原始细胞池。

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