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通过聚合酶链反应检测色盲的基因改变。

Detection of gene alteration for color vision defects by polymerase chain reaction.

作者信息

Zhang Q, Mao W, Ma Q, Zeng R, Wu L, Wu D Z, Chen Y

机构信息

Eye Research Institute, Sun Yat-sen University of Medical Sciences Guangzhou, China.

出版信息

Yan Ke Xue Bao. 1992 Mar;8(1):8-11.

PMID:1286683
Abstract

According to the fact that the abnormalities of visual pigment genes were always involved in the changing of the exon 5, two oligonucleotide primers were designed to amplify the exon 5 of red pigment gene and green pigment gene. After electrophoresis of the PCR products digested with Rsal or Sau3A, the DNA fragments from the exon 5 of red pigment gene (RPG) and green pigment gene (GPG) were separated since there are different restriction endonuclease sites. On the other hand, we analyzed the exon 5 related fragment by Southern blot hybridization with probe out of the 3' end of the fourth intron of green pigment gene. The results of PCR are consistent with nucleic acid hybridization. PCR technique will be of value in prenatal evaluation and genetic counselling.

摘要

鉴于视觉色素基因的异常总是涉及外显子5的变化,设计了两个寡核苷酸引物来扩增红色色素基因和绿色色素基因的外显子5。用Rsal或Sau3A消化PCR产物后进行电泳,由于存在不同的限制性内切酶位点,红色色素基因(RPG)和绿色色素基因(GPG)外显子5的DNA片段得以分离。另一方面,我们用绿色色素基因第四内含子3'端以外的探针通过Southern印迹杂交分析外显子5相关片段。PCR结果与核酸杂交结果一致。PCR技术在产前评估和遗传咨询中将具有价值。

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