摘要
应用TGGE对一日本PKU家庭成员的PAH基因Exon 3的PCR扩增产物,进行了突变基因的检测。患儿已被证实为Exon 3突变的纯合子。在电泳中,纯合子与正常对照分别显示1条区带、杂合子出现4条带;随着温度的提高、电泳时间的延长,纯合子与正常对照呈不同的电泳迁徙率,据此可对PKU患儿及携带者做出诊断。
We applied the temperature gradient gel electrophoresis(TGGE) to a Japanese PKU family bearing a point mutation of Exon 3Arg^(?) (CGA) -Ter (TGA) in PAH gene. The proband was a homozygore of the mutation. After the procedure of Denaturation and Renaturation of the PCR products, the homozygote showed one band and the heterozygote showed four bands on TGGE. The mobility patterns of the PCR products between homozygote and normal control varied as the time and temperature of the electrophoresis increased, so that the diagnosis was achieved,
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1993年第3期153-155,共3页
Chinese Journal of Medical Genetics
关键词
温度梯度
苯丙酮尿症
Temperature gradient Phenylketonuria
