Pigment gene expression in protan color vision defects.
Pigment gene expression in protan color vision defects.
复制标题
Protan 色觉缺陷中的色素基因表达。
DOI：
10.1016/s0042-6989(97)00440-9
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发表时间：
1998
期刊：
影响因子：
1.8
通讯作者：
Neitz,M
中科院分区：
文献类型：
--
作者：
Balding,SD;Sjoberg,SA;Neitz,J;Neitz,M
我们筛选了150名男性眼球捐赠者，并确定了4名没有或表达L色素基因的人，这与他们每个人都患有先天性原色素色觉缺陷一致。其中一位捐献者被鉴定为原胞体，因为他有并表达了一个编码M色素的X染色体重复色素基因。三个被归类为原畸形，因为每个表达的基因指定两个光谱不同的M色素显着水平。在每个原始异常阵列中的第一个基因表达最多，并编码一种M色素，其氨基酸序列与正常男性的M色素不同。
We screened 150 male eye donors and identified four who did not have or express L pigment genes, consistent with each of them having a congenital protan color vision defect. One donor was identified as a protanope because he had and expressed a single X-chromosome photopigment gene that encoded an M pigment. Three were categorized as protanomalous because each expressed significant levels of genes specifying two spectrally different M pigments. The first gene in each of the protanomalous arrays was expressed the most and encoded an M pigment that differed in amino acid sequence from M pigments in color normal men.