COLOR VISION MOLECULAR AND PSYCHOPHYICAL STUDIES

中心目标是人类遗传学的分子遗传学定义。 色觉在色素水平和相关的异质性 X连锁红绿色觉缺陷的分子基因型 先进的表型测量。 红绿色素基因是 排列成一个基因复合体，由一个红色和一个或多个 绿色色素基因。 色觉缺陷是由不合法的 产生缺失或杂交基因的重组（绿-红或红- 绿色）。 表达红色或绿色色素的视网膜视锥细胞的比例 没有直接确定。 使用心理物理学的间接估计 方法千差万别。 我们将试图描绘出确切的比例， 红、绿色视锥空间分布原位分子测量 人类视网膜上的技术。 这些发现将是基础性的 视觉科学的重要性。 研究将在人类志愿者身上进行， 将在白细胞DNA中确定基因型。 的确切位置 杂交基因将决定我们的假设，只有最 近端绿色或杂交基因在视网膜中表达。 峰值 各种正常和异常色素的吸光度将相互关联 分子和心理物理学的结果。 人类视色素基因将在小鼠视网膜中表达， 转基因技术，以确定是否二色视小鼠可以开发 三色视觉 如果这种方法有效，可以得出结论， 不需要新的神经元回路来实现更复杂的颜色 歧视 这一结果将有助于阐明， 杂合子人类女性中的四色是可能的。 通过丝氨酸/丙氨酸确定的颜色感知差异 红色素基因第180位的多态性将在 通过结合分子和心理物理学的方法。 分子 基因型将在几个不同种族人群中确定， 色觉频率 值得注意的X染色体偏斜和相反现象 同卵双生子中颜色突变杂合子失活 缺陷，使一个双胞胎色觉缺陷，另一个双胞胎 将在同卵双胞胎的大样本中进行研究，以确定 这种有趣的生物现象的频率。 在实际的层面上，这些研究可能会导致血液颜色测试 视力缺陷 阐明了这种病毒的分子遗传结构， 影响感官知觉和心理物理的部位 研究是基因型/表型的高级研究的模型 人类神经遗传学的相关性

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.