M- and L-cones in early infancy: III. Comparison of genotypic and phenotypic markers of color vision in infants and adults.
M- and L-cones in early infancy: III. Comparison of genotypic and phenotypic markers of color vision in infants and adults.
复制标题
婴儿早期的 M 和 L 锥体：III。
DOI：
10.1016/s0042-6989(98)00067-4
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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：
Bieber,ML;Werner,JS;Knoblauch,K;Neitz,J;Neitz,M
对5名男性儿童（103岁）进行了遗传分析，其中2名疑似正常人，3名疑似先天性色觉缺陷。这些分类是基于视觉诱发电位（VEP）的反应，M-和L-锥隔离刺激在以前的研究中获得时，每个主题是4-或8周龄。本分析是在盲法研究中进行的，以表征这些受试者的基因型。还对四名具有各种色觉表型的男性成年人进行了测试作为对照。使用非侵入性技术分离DNA，然后进行聚合酶链反应（PCR）扩增和限制性内切酶分析，以检查每个受试者的基因组DNA。遗传分析证实了两个颜色缺陷的婴儿的VEP鉴定，并与其他两个婴儿的颜色正常的诊断是一致的。第三个婴儿通过VEP分析预测有一个protan缺陷，但他没有一个基因阵列通常发现在protan观察者。
Genetic analyses were performed on five male children (∼3 years), two suspect color-normals and three suspects for congenital color vision deficiencies. These classifications were based on visually-evoked potential (VEP) responses to M- and L-cone-isolating stimuli obtained in a previous study when each subject was either 4- or 8-weeks old. The present analyses were performed in a blind study to characterize the genotypes of these subjects. Four male adults with various color vision phenotypes were also tested as a control. DNA was isolated using a non-invasive technique followed by polymerase chain reaction (PCR) amplification and restriction enzyme analysis to examine the genomic DNA of each subject. The genetic analyses confirmed the VEP identification of two color defective infants, and were consistent with the diagnosis of two other infants as color normal. A third infant was predicted by VEP analysis to have a protan defect, but he did not have a gene array typically found in protan observers.