用SSCP分析技术检测人苯丙氨酸羟化酶基因外显子5的点突变  

Mutation of the exon 5 of phenylalanine hydroxylase gene defected by SSCP analysis.

作　　者：马继红[1,2] 李辉[1,2] 李少英 黄尚志[1,2] 罗佳滨[1,2] 

机构地区：[1]中国医学科学院基础所遗传室 [2]佳木斯医学院生物教研室

出　　处：《中国优生与遗传杂志》1998年第5期13-13,17,共2页Chinese Journal of Birth Health & Heredity

基　　金：85攻关课题;CMB基金

摘　　要：应用单链构型多态分析技术（ｓｉｎｇｌｅｓｔｒａｎｄｃｏｎｆｏｒｍａｔｉｏｎｐｏｌｙｍｏｒｐｈｉｓｍ，ＳＳＣＰ）检测苯丙酮尿症患者的苯丙氨酸羟化酶基因外显子５，在２３例苯丙酮尿症患者中检出２例含突变泳带。测序结果１例为错义突变Ｒ１５８Ｑ，另１例为无义突变Ｙ１６５Ｘ，其中Ｒ１５８Ｑ为再发突变。The exon 5 of the phenylalanine hydroxylase gene was detected by single strand conformation polymorphism (SSCP) analysis in 23 patients with phenylketonuria.Two displayed abnormal patterns,one of them was a missense mutation R158Q,the other was a nonsense mutation Y165X.The mutation R158Q was recurrent and mutation Y165 X was novel.

关 键 词：苯丙酮尿症 苯丙氨酸羟化酶 突变 SSCP 

分 类 号：R596.102[医药卫生—内科学]