Zhang Q, Mao W, Ma Q, Zeng R, Wu L, Wu D Z, Chen Y
Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China.
Yan Ke Xue Bao. 1990 Dec;6(3-4):51-7.
Applying recombinant DNA techniques, the structures of red pigment gene (RPG) and green pigment gene (GPG) were analyzed for 43 patients with protan or deutan (including 3 females), 4 normal relatives and 3 carriers out of 3 families, as well as 11 normal controls. Abnormality of RPG was detected in all 19 protan and that of GPG was found in 14 out of 24 deutan. In about 80% (32/40) of protan and deutan the changing of exon 5 for RPG or GPG was discovered. In protan the normal RPG was replaced by a 5' red -3' green hybrid gene. Some of the deutan had no GPG, some had 5' green -3' red hybrid gene with or without GPG. Furthermore, the exon 5 of RPG and GPG was amplified by polymerase chain reaction (PCR) and further analyzed by Rsa I digestion. The results for PCR are identical to that of Southern blot hybridization.
应用重组DNA技术，对43例红色盲或绿色盲患者（包括3名女性）、4名正常亲属、3个家庭中的3名携带者以及11名正常对照者的红色素基因（RPG）和绿色素基因（GPG）结构进行了分析。在所有19例红色盲患者中均检测到RPG异常，在24例绿色盲患者中有14例发现GPG异常。在约80%（32/40）的红色盲和绿色盲患者中发现RPG或GPG的第5外显子发生改变。在红色盲患者中，正常的RPG被一个5'红-3'绿杂种基因所取代。部分绿色盲患者无GPG，部分患者有5'绿-3'红杂种基因，有或无GPG。此外，通过聚合酶链反应（PCR）扩增RPG和GPG的第5外显子，并通过Rsa I酶切进一步分析。PCR结果与Southern印迹杂交结果一致。
