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蓝色色盲的遗传学

The genetics of tritan disturbances.

作者信息

Went L N, Pronk N

出版信息

Hum Genet. 1985;69(3):255-62. doi: 10.1007/BF00293036.

DOI:10.1007/BF00293036
PMID:3872255
Abstract

Tritan (blue-green) colour vision disturbances have been found in 79 individuals in six families, revealing an autosomal dominant mode of inheritance with a wide variability of test results within families. Evidence is presented that it is--in contradistinction to the X-chromosomally inherited red-green defects--incorrect to make a subdivision between dichromasia (tritanopia) and anomalous trichromasia (tritanomaly). On the basis of three small screening series, totalling 1900 individuals, the frequency of tritan disturbances is estimated to be around 2 per 1000. Seven males have been observed carrying both inherited tritan and red-green defects.

摘要

在六个家族的79个人中发现了蓝绿色( Tritan )色觉障碍,揭示了常染色体显性遗传模式,家族内测试结果差异很大。有证据表明,与X染色体遗传的红绿色缺陷不同,将二色视(蓝色盲)和异常三色视(蓝色异常)进行细分是不正确的。基于三个总计1900人的小型筛查系列,估计蓝色觉障碍的发生率约为每1000人中有2例。观察到7名男性同时携带遗传性蓝色觉和红绿色觉缺陷。

相似文献

1
The genetics of tritan disturbances.蓝色色盲的遗传学
Hum Genet. 1985;69(3):255-62. doi: 10.1007/BF00293036.
2
Comparative colour vision and other ophthalmological studies in three families with dominant inherited juvenile optic atrophy.三个显性遗传青少年视神经萎缩家族的比较色觉及其他眼科研究。
Mod Probl Ophthalmol. 1974;13(0):277-81.
3
Color matching in autosomal dominant tritan defect.
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4
[Tritan type congenital anomalies and acquired color vision defects. Results of a genetic survey in an isolated group, the Kel Kummer].[三原色型先天性异常与后天性色觉缺陷。对一个孤立群体凯尔库默人的基因调查结果]
Bull Mem Soc Fr Ophtalmol. 1980;92:336-44.
5
Colour vision, ophthalmological and linkage studies in a pedigree with a tritan defect.一个伴有蓝色色盲缺陷家系的色觉、眼科及连锁研究
Mod Probl Ophthalmol. 1974;13(0):272-6.
6
Frequencies of different types of colour vision defects in the Netherlands.
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Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.莱伯遗传性视神经病变无症状携带者后天性色觉缺陷的男性患病率。
Invest Ophthalmol Vis Sci. 2007 May;48(5):2362-70. doi: 10.1167/iovs.06-0331.
8
Color vision in dominant optic atrophy.显性视神经萎缩中的色觉
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9
Tritan pedigree without optic-nerve atrophy.无视神经萎缩的Tritan谱系。
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Colour contrast thresholds in congenital colour defectives.
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Spectral Filter Selection for Increasing Chromatic Diversity in CVD Subjects.用于增加 CVD 患者色觉多样性的光谱滤波器选择。

本文引用的文献

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THE INHERITANCE OF CONGENITAL TRITANOPIA WITH THE REPORT OF AN EXTENSIVE PEDIGREE.先天性蓝色盲的遗传及一个大家族谱系报告
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The familial distribution of congenital tritanopia, with some remarks on some similar conditions.先天性蓝色盲的家族分布,并对一些类似病症作了评述。
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Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners.囊性纤维化的产前筛查:对携带者及其伴侣的心理影响。
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Color matching in autosomal dominant tritan defect.
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X-linked incomplete achromatopsia with more than one class of functional cones.具有不止一类功能性视锥细胞的X连锁不完全性全色盲
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Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy.
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Colour vision, ophthalmological and linkage studies in a pedigree with a tritan defect.一个伴有蓝色色盲缺陷家系的色觉、眼科及连锁研究
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Congenital tritanopia without neuroretinal disease.无神经视网膜疾病的先天性蓝色色盲
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A new anomaloscope employing interference filters.
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