先天性色觉异常的色觉基因研究

VISUAL PIGMENT GENES FOR COLOR VISION DEFECTS

应用分子杂交技术对43例先天性红与绿色觉异常患者(包括3例女性患者)、3个色觉异常家系的4名正常亲属及3名携带者、11例正常人的色觉基因进行了分析,发现100%(19/19)的红色觉异常、58%(14/24)的绿色觉异常可以发现红或绿色觉基因的异。80%(32/40)的患者可检测到红或绿色觉基因第5个外显子部分的改变。红色觉异常主要是正常红色觉基因被5′红—3′绿杂种基因替代所致;绿色觉异常主要是绿色觉基因完全缺失或形成5′绿—3′红杂种基因所致。另外,应用聚合酶链反应法可以较容易地检测出色觉基因第5个外显子的改变。

Applying recombinant DNA techni- ques,the structures of red pigment gene(RPG)and green pigment gene(GPG)were analyzed for 43 pa- tients with protan or deutan(including 3 females),4 normal reladves 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 hybridiza-