COLOR VISION MOLECULAR AND PSYCHOPHYICAL STUDIES

中心目标是对人类分子遗传学的定义 在光调色水平上的颜色视觉和相关的异质性 X连锁红绿色视觉缺陷的分子基因分型 先进的表型测量。红绿色的色素基因是 排列成由单个红色和一个或多个 绿色色素基因。色觉缺陷是由不合法引起的 产生缺失或杂交基因的重组(绿-红或红-绿 绿色)。 表达红色或绿色色素的视网膜视锥细胞的比率 不能直接确定。使用心理物理学的间接估计 方法千差万别。我们将尝试勾勒出确切的比例和 用原位分子方法研究红锥和绿锥的空间分布 人类视网膜的技术。这些发现将具有根本性的意义 对视觉科学的重要性。 这项研究将在人类志愿者身上进行，他们的颜色视觉 将在白细胞DNA中确定基因类型。它的确切位置 杂交基因将根据我们的假设确定，只有最 近端的绿色或杂交基因在视网膜中表达。尖峰 各种正常和异常色素的吸光度将相互关联 分子和心理物理结果。 人类视觉色素基因将通过以下方式在小鼠视网膜中表达 确定二色性小鼠是否可以发育的转基因技术 三色视觉。如果这种方法奏效，可以得出结论： 新的神经元电路不需要达到更复杂的颜色 歧视。这一结果将有助于阐明 杂合子人类女性可能会发生四色现象。 丝氨酸/丙氨酸决定的颜色知觉差异 红色素基因180位的多态将在 通过分子和心理物理相结合的方法。分子 将在几个不同种族的人群中确定基因型 色觉频率。 X染色体偏斜和相反的显著现象 同卵双胞胎中颜色视觉杂合子的失活 导致一对双色觉缺陷和另一对双色觉缺陷的缺陷 将对同卵双胞胎的大样本进行研究，以确定 这种有趣的生物现象出现的频率。 在实际层面上，这些研究可能会导致血液颜色测试 视力缺陷。阐明该基因的分子遗传结构 影响感官知觉的部位与心理物理 调查是深入研究基因/表型的典范。 人类神经遗传学中的相关性。

The central objective is a definition of the molecular genetics of human color vision at the photopigment level and to correlate heterogeneity of molecular genotypes of X-linked red-green color vision defects with advanced phenotype measurements. The red-green pigment genes are arranged as a gene complex consisting of a single red and one or more green pigment genes. Color vision defects are caused by illegitimate recombinations producing deletions or hybrid genes (green-red or red- green). The ratio of retinal cones expressing either the red or green pigment ha not been determined directly. Indirect estimates using psychophysical methods vary widely. We will attempt to delineate the exact ratio and spatial distribution of red and green cones by in situ molecular techniques on human retinas. These findings will be of fundamental importance for the visual sciences. Studies will be performed on human volunteers whose color vision genotypes will be determined in leukocyte DNA. The exact position of hybrid genes will be determined on our hypotheses that only the most proximal green or hybrid genes are expressed in the retina. Peak absorbance of the various normal and abnormal pigments will be correlate with molecular and psychophysical results. Human visual pigment genes will be expressed in mouse retinae by transgenic techniques to determine if dichromatic mice can develop trichromatic vision. If this approach works, it can be concluded that novel neuronal circuitry is not required to achieve more complex color discrimination. This result will help to elucidate whether tetrachromacy in heterozygous human females is possible. Differences in color perception as determined by the serine/alanine polymorphism at position 180 in the red pigment gene will be explored in females by combined molecular and psychophysical methods. Molecular genotype will be determined in several ethnic populations with different color vision frequencies. The remarkable phenomenon of skewed and opposite X chromosome inactivation in identical female twin pairs heterozygous for color visio defects which makes one twin color vision defective and the other twin normal will be studied in a large sample of identical twins to determine the frequency of this interesting biological phenomenon. On a practical plane, these studies may lead to blood tests for color vision defects. Elucidation of the molecular genetic structure of this locus affecting sensory perception together with psychophysical investigations is a model for the advanced study of genotype/phenotype correlation in human neurogenetics.