Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array.
Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array.
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DOI：
10.1007/s10038-006-0008-2
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发表时间：
2006-01-01
影响因子：
3.5
通讯作者：
Ohkubo, Iwao
中科院分区：
文献类型：
--
作者：
Ueyama, Hisao;Tanabe, Shoko;Ohkubo, Iwao
人类X染色体上的正常视色素基因阵列在第一位置具有红色基因，在第二位置具有绿色基因。超过一半的阵列在下游有额外的绿色基因，但只有阵列的前两个基因可能在视网膜中表达。一个阵列，由四个基因在两个日本参与者，A121和A447，检测脉冲场凝胶电泳和随后的Southern杂交或单核苷酸引物延伸反应。在两个参与者中，阵列的第一个基因是绿色，下游基因是红色和绿色，第四个基因是绿色。通过比较长距离PCR扩增的基因间区域的多态性位点，确定红色基因位于第二位。这样的阵列与正常顺序相反的色素基因，绿色-红色作为前两个，以前从未报道过。他们被认为有正常的色觉，但表现出原色素缺乏症（原色素异常症），一种缺乏红色素的表型。红色基因在外显子和外显子/内含子边界没有突变，但在两名参与者的启动子中有A-71 C取代。
Normal visual pigment gene arrays on the human X chromosome have a red gene at the first and a green gene at the second positions. More than half of the arrays have additional green genes downstream, but only the first two genes of the array are likely to be expressed in the retina. An array consisting of four genes in two Japanese participants, A121 and A447, was detected either by pulsed field gel electrophoresis and subsequent Southern hybridization or by single nucleotide primer extension reaction. In both participants, the first gene of the array was green, downstream genes were red and green, and the fourth gene was green. The red gene was determined to be at the second position by comparison of polymorphic sites among the intergenic regions that had been amplified by long-range PCR. Such an array with a reverse normal order of pigment genes, green-red as the first two, has never been reported before. They were expected to have normal color vision but showed protan deficiency (protanomaly), a phenotype lacking the red pigment. The red gene had no mutations in the exons and exon/intron boundaries, but had an A-71C substitution in the promoter in both participants.