摘要
应用ARMS方法对一PKU家系成员进行了PAH突变基因的快速检测,结果鉴定:患儿为intron4切拼授端与R413P点突变的复合杂合子,其父母公别为上述突变基因的携带者。由于ARMS分析能用绒毛活检材料进行,所以,此法可用于遗传病的早期产前诊断。
The mutations in PAH gene of a chinese PKU family are identified by ARMS. The results demostrate that the proband is a compound heterozygote of R413P mutation in Exonl2 and 3'acceptor site(g→a) mutation in Intron4 of PAH gene and the parents are carrier of one of the mutations above, respectively. As radioisotope is not needed in this experiment, the main steps are only PCR with the specifically designed primers and electrophoresis on 3% agarose gel, the system is much simpler than any other molecular biological methods on diagnosis of PKU mutation. Thus it is though the ARMS may become one of the screeing methods in PKU antenatal diagnosis.
