Number and variations of the red and green visual pigment genes in Japanese men with normal color vision
Number and variations of the red and green visual pigment genes in Japanese men with normal color vision
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DOI：
10.1016/s0021-5155(00)00298-7
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发表时间：
2001-01-01
影响因子：
2.4
通讯作者：
Kani, A
中科院分区：
文献类型：
--
作者：
Hayashi, S;Ueyama, H;Kani, A
目的：我们分析了日本男性红/绿色视色素基因的颜色正常，了解颜色异常和遗传缺陷之间的关系，方法：DNA从120个颜色正常的日本男性进行聚合酶链反应（PCR）扩增的红/绿色视色素基因的外显子2-5和PCR产物进行测序。红：绿色基因比率由外显子5的测序电泳图和相同外显子的Mva I限制性片段分析估计。对色素基因芯片中的第一个基因和下游基因分别进行PCR、直接测序和/或单链构象多态性分析。结果：根据测序电泳图谱上核苷酸峰高比值估算的红/绿色基因比值与MvnI-限制性片段分析估算的红/绿基因比值一致。在分析的受试者中，43%（n = 52）的患者为1：1，31%（n = 49）为1：2，6%（n = 7）为1.3，9%（n = 11）为1：>3。所有受试者的色素基因阵列中的第一个基因都是红色的。仅1例受试者（N22）具有绿-红杂交基因。外显子2和4各有2种单倍型，外显子3高度多态。绿色基因第5外显子第283位密码子存在一个多态性位点，多态性频率为32%。数据和建立技术可能是有用的分析这些基因在日本人口中的颜色缺陷的主题。Jpn J Ophthalmol 2001;45：60-67（C）2001日本眼科学会。
Purpose: We analyzed the red/green visual pigment genes in color-normal Japanese men to understand the relationship between color anomalies and genetic;defects.Methods: DNA from 120 color-normal Japanese men was subjected to polymerase chain reaction (PCR)-amplification for exons 2-5 of the red/green visual pigment genes and the PCR products were sequenced. The red:green gene ratios were estimated from the sequencing electropherograms of exon 5 and also from MvaI-restriction fragment analysis of the same exon. The first gene and the downstream genes in the pigment gene array were separately analyzed by PCR, direct sequencing, and/or single-strand conformation polymorphisms.Results: The red:green gene ratios estimated from the ratios of peak heights of nucleotides on the sequencing electropherograms coincided with those estimated from the MvnI-restriction fragment analysis. Among the subjects analyzed, they were 1:1 in 43% (n = 52), 1:2 in 31% (n = 49), 1.3 in 6% (n = 7), and 1:>3 in 9% (n = 11). The first gene in the pigment gene arrays was red in all subjects. Only 1 subject (N22) had a green-red hybrid gene. Exons 2 and 4 had 2 haplotypes each, but exon 3 was highly polymorphic. Exon 5 of the green genes had one polymorphism at codon 283 with a frequency of 32%.Conclusions: The features of visual pigment genes in color-normal Japanese men were revealed. The data and establishing techniques may be useful for analyzing these genes in color-deficient subjects in the Japanese population. Jpn J Ophthalmol 2001;45:60-67 (C) 2001 Japanese Ophthalmological Society.