摘要
应用ARMS方法对16个中国PKU家庭进行了常见PAH致病基因的筛查。在32个突变位点中,突变基因(点突变)检出率分别为:Exon7突变为56.25%、Exon6突变为12.5%,Exon12为6.25%、Exon3为3.13%和intron4切拼受端突变为9.38%。由于该方法对突变的检出率已达到87.5%、且简便、快速、不应用放射性同位素,故可作为产前诊断PKU的一种手段。
Mutations in PAH Gene
among 16 families with PKU were detected by ARMS.Thedetecting rates among 32 Mutation allele
were 56.25% for Exon7, 12.5%for Exon6,6.25%forExon12,3.13%for Exon3 and 9. 38%for intron 4
accceptor splice site in PAH Gene,respectively. Be- cause of the simplicity and rapidness and no
radioisotope,the method could be one of the useful diag-nostic technique for PKU.
出处
《白求恩医科大学学报》
CSCD
1995年第2期200-202,共3页
Journal of Norman Bethune University of Medical Science