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先天性红绿色觉异常基因缺失与杂种基因融合位点分析 |
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申煌煊 张清炯* 肖学珊 黎仕强 郭莉 江福钿
【摘要】 目的 研究先天性红绿色觉异常基因缺失与杂种基因融合位点。方法 收集11例红色觉异常、19例绿色觉异常和5名正常人的白细胞基因组DNA，分别用PCR法扩增每人的红和绿色觉基因的启动子和外显子2、3、4和5，应用异源双链-SSCP法分析PCR产物，用已知序列的红与绿色觉基因产物作标准，确定待检个体红或绿色觉基因的来源与各部分的组成。结果 30例红与绿色觉异常患者中14例可检测到杂种基因，7例完全缺失绿色觉基因。杂种基因融合位点分别在外显子1～内含子1(4例)、内含子2～3(5例)和内含子4(5例)。结论 外显子3及其邻近的内含子2和3仍是常见的融合位点，但在其它部位发生的融合也不少见。
【关键词】 先天性色觉异常 色觉基因 杂种基因 基因缺失 融合位点
Analysis of fusion points in hybrid genes and gene deletion
for congenital red-green color vision defects
SHEN Huangxuan, ZHANG Qingjiong*, XIAO Xueshan, LI Shiqiang,GUO Li, JIANG Futian. Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou,510060 P.R.China.E-mail:[email protected]
【Abstract】 Objective To investigate gene deletion and the fusion points of hybrid genes in congenital red-green color vision defects.Methods Genomic DNA was collected from 11 protans, 19 deutans and 5 normal controls. Promoter and exons 2-5 of the red and green pigment genes in these subjects were analyzed by using PCR-Heteroduplex-SSCP analysis. The origin and component of each individual gene were determined by comparison with the patterns of known sequence of the red and green visual pigment genes.Results Fourteen out of the 30 patients with red-green color vision defects were found to have hybrid gene. The fusion points of the hybrid gene were located in exon 1-intron 1(4 cases), intron 2-3(5 cases) and intron 4 (5 cases).Conclusion The fusion point of a hybrid gene may occur in exon 1-intron 1 and intron 4 as well as in intron 2-3 (including exon 3).
【Key words】 Congenital color vision defects Visual pigment gene Hybrid gene Gene deletion Fusion point
先天性色觉异常(俗称色盲)是人类最常见的单基因遗传病，基中主要是红、绿色觉异常。红和绿色觉是由位于Xq28的高度同源的红和绿色觉基因所调控，正常人有一个红色觉基因和一个或多个绿色觉基因，在Xq28呈头对尾串联排列。红与绿色觉基因均有6个外显子，两个基因的外显子1之间与外显子6之间完全相同［1，2］。我们曾用不同方法对38例先天性红、绿色觉异常患者的色觉基因进行了分析［3，4］，发现基因缺失及融合(杂种)基因形成是中国人先天性红绿色觉异常的主要原因，并发现在中国男性中[1] [2] 下一页
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