Department of Ophthalmology, Kaohsiung Chang-Gung Memorial Hospital, Kaohsiung 833, Taiwan.
School of Medicine, Chang-Gung University, Taoyuan 333, Taiwan.
Int J Mol Sci. 2023 Oct 17;24(20):15247. doi: 10.3390/ijms242015247.
This study aimed to investigate the prevalence of color vision deficiencies (CVDs) and determine whether carriers could be detected by analyzing the visual pigment genes. Materials and Methods: The data of students who underwent routine CVD screening using the Ishihara color test in Kaohsiung, Southern Taiwan were analyzed. Furthermore, the DNA samples of 80 randomly selected females and four obligate carriers were analyzed. The most upstream genes, downstream genes, and the most downstream genes in the red/green pigment gene arrays were amplified separately using polymerase chain reaction (PCR), and exon 5 of each gene was analyzed. The prevalence of congenital red-green CVD in this study was 3.46% in males and 0.14% in females. The PCR analysis of the first gene, downstream gene, and last gene revealed normal patterns in 73 normal cases. Seven unusual patterns were detected in two proton carriers and five deutan carriers. Among the randomly selected females, 8.8% (7/80) were CVD carriers. The prevalence of CVD among male Taiwanese students in this study was 3.46%. Female carriers of congenital CVD can be identified by molecular analysis of the visual pigment genes. The proportion of CVD carriers among the randomly selected females was 8.8%, which was slightly higher than expected and further studies are warranted.
本研究旨在调查颜色视觉缺陷（CVD）的流行率，并通过分析视觉色素基因来确定是否可以检测到携带者。
分析了台湾南部高雄市通过石原氏色盲测试进行常规 CVD 筛查的学生数据。此外，还分析了 80 名随机选择的女性和 4 名必需携带者的 DNA 样本。使用聚合酶链反应（PCR）分别扩增红色/绿色色素基因阵列中最上游基因、下游基因和最下游基因，分析每个基因的外显子 5。
本研究中先天性红绿 CVD 的患病率为男性 3.46%，女性 0.14%。对 73 例正常病例的第一个基因、下游基因和最后一个基因的 PCR 分析显示正常模式。在两个质子携带者和五个 Deutan 携带者中检测到七个异常模式。在随机选择的女性中，8.8%（7/80）为 CVD 携带者。本研究中台湾男性学生 CVD 的患病率为 3.46%。通过视觉色素基因的分子分析可以识别先天性 CVD 的女性携带者。随机选择的女性中 CVD 携带者的比例为 8.8%，略高于预期，需要进一步研究。
