PAH基因外显子7上一个中性突变的鉴定  

Detection of a silent mutation in exon 7 of the phenylalanine hydroxylase gene

作　　者：马继红[1] 黄尚志[2] 李少英[1] 李月秋[1] 罗佳滨[1] 

机构地区：[1]佳木斯医学院生物教研室 [2]中国医学科学院基础所遗传室

出　　处：《黑龙江医药科学》1997年第5期8-9,共2页Heilongjiang Medicine and Pharmacy

摘　　要：应用单链构型多态(Single strand conformation polymorphism,SSCP)分析技术检测了苯丙酮尿症患者的苯丙氨酸羟化酶基因外显子7,其中一例样品含突变泳带,经直接测序结果发现在密码子245上有一个碱基替换,由 G—A,但氨基酸未发生改变,为一例中性突变。The exon 7 of the phenylalanine hydroxylase gene was detected by single strand conformation polymorphism(SSCP)analysis in 23 patients with phenylketonuria.One sample displayed abnormal patterns,which had a base transition of G to A at code 245 by direct sequencing.The mutation was a silent mutation which didn't change the encoded amino acid.

关 键 词：苯丙酮尿症 苯丙氨酸羟化酶 中性突变 

分 类 号：R589[医药卫生—内分泌]