MOLECULAR-PATTERNS OF X-CHROMOSOME-LINKED COLOR-VISION GENES AMONG 134 MEN OF EUROPEAN ANCESTRY
MOLECULAR-PATTERNS OF X-CHROMOSOME-LINKED COLOR-VISION GENES AMONG 134 MEN OF EUROPEAN ANCESTRY
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DOI：
10.1073/pnas.86.3.983
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发表时间：
1989-02-01
影响因子：
11.1
通讯作者：
MOTULSKY, AG
中科院分区：
文献类型：
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作者：
DRUMMONDBORG, M;DEEB, SS;MOTULSKY, AG
我们使用Southern印迹杂交技术研究了134名高加索男性中与X染色体连锁的色觉基因，这些基因编码红色和绿色视色素的脱辅基蛋白。113例（84.3%）色觉色素基因排列正常。所有的红色素基因，绿色色素基因的数量从1到5不等，模式为2。表明正常色觉的分子基因型的频率（84.3%）显着低于色觉表型的先前研究中观察到的。色觉缺陷可归因于红色或绿色色素基因的缺失或归因于包含红色和绿色色素基因的部分的杂交基因的形成[Nathans，J.，Pintanida，T. P.，埃迪河L.，表演，T。B.，小的，和Hogness，D. S.（1986）Science 232，203-210]。在15例中观察到特征性异常模式（11.2%）个人：7（5.2%）具有氘核异常特征的广告模式（轻度绿色色觉缺陷），2（1.5%）有特征性的绿色盲（严重的绿色色觉缺陷），6例（4.5%）有红色素模式（红觉缺陷型红色素异常和红色素异常不能用目前的分子方法区分）。另外6个个体（4.5%）除了正常的红色和绿色基因外，还观察到以前未描述的由绿色和红色色素基因片段组成的杂交基因模式。其中只有2个模式被认为是deuteranomeric。因此，DNA测试检测异常色觉色素基因的频率高于表型色觉测试的预期。一些与杂交基因相关的色觉基因阵列可能介导正常色觉。
We used Southern blot hybridization to study X chromosome-linked color vision genes encoding the apoproteins of red and green visual pigments in 134 unselected Caucasian men. One hundred and thirteen individuals (84.3%) had a normal arrangement of their color vision pigment genes. All had one red pigment gene; the number of green pigment genes ranged from one to five with a mode of two. The frequency of molecular genotypes indicative of normal color vision (84.3%) was significantly lower than had been observed in previous studies of color vision phenotypes. Color vision defects can be due to deletions of red or green pigment genes or due to formation of hybrid genes comprising portions of both red and green pigment genes [Nathans, J., Pintanida, T. P., Eddy, R. L., Shows, T. B., Jr., and Hogness, D. S. (1986) Science 232, 203-210]. Characteristic anomalous patterns were seen in 15 (11.2%) individuals: 7 (5.2%) ad patterns characteristic of deuteranomaly (mild defect in green color perception), 2 (1.5%) had patterns characteristic of deuteranopia (severe defect in green color perception), and 6 (4.5%) had protan patterns (the red perception defects protanomaly and protnopia cannot be differentiated by current molecular methods). Previously undescribed hybrid gene patterns consisting of both green and red pigment gene fragments in addition to normal red and green genes were observed in another 6 individuals (4.5%). Only 2 of these patterns were considered as deuteranomalous. Thus, DNA testing detected anomalous color vision pigment genes at a higher frequency than expected from phenotypic color vision tests. Some color vision gene arrays associated with hybrid genes are likely to mediate normal color vision.