论文部分内容阅读
目的 探讨红、绿色觉基因变异是否与锥细胞营养不良、Leber氏黑有关。方法 收集锥细胞营养不良2 0例 ,Leber氏黑 8例。应用PCR 异源双链 SSCP法分析这些患者的红、绿色觉基因 ,序列分析确定点突变。结果 2例锥细胞营养不良患者仅有单个红 绿杂种基因而缺失正常的红、绿色觉基因 ,这种色觉基因变异类型与先天性红、绿色觉异常相同。结论 该组锥细胞营养不良和Leber氏黑不是由色觉基因变异所致
Objective To investigate whether the genetic variations of red and green genes are related to conodial malnutrition and Leber’s blackhead. Methods Condyloma dystrophy was collected in 20 cases and in 8 cases of Leber’s blackberry. The red and green sensory genes of these patients were analyzed by PCR heteroduplex SSCP, and sequence analysis identified point mutations. Results In 2 patients with conotrophic dystrophy, only a single red and green hybrid gene was deleted and the normal red and green sensory genes were deleted. The type of chromosomal aberrations was the same as congenital red and green sensations. Conclusions Condyloma malnutrition and Leber’s blackbird are not caused by the chromosomal variation