先天性红绿色觉缺陷的杂交基因融合点及基因缺失分析
[Analysis of fusion points in hybrid genes and gene deletion for congenital red-green color vision defects].
作者信息
Shen H, Zhang Q, Xiao X, Li S, Guo L, Jiang F
机构信息
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong, 510060 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Oct;16(5):290-2.
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), introns 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 introns 2-3(including exon 3).
目的
研究先天性红绿色觉缺陷中基因缺失及杂合基因的融合点。
方法
收集11例红色弱患者、19例绿色弱患者及5例正常对照者的基因组DNA。采用PCR-异源双链-单链构象多态性分析对这些受试者红色和绿色色素基因的启动子及外显子2至5进行分析。通过与红色和绿色视色素基因已知序列模式进行比较，确定每个个体基因的来源和组成。
结果
在30例红绿色觉缺陷患者中，发现14例存在杂合基因。杂合基因的融合点位于外显子1-内含子1（4例）、内含子2-3（5例）和内含子4（5例）。
结论
杂合基因的融合点可能出现在外显子1-内含子1、内含子4以及内含子2-3（包括外显子3）。
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