摘要
本文报道用聚合酶链(PCR)DNA扩增和寡核苷酸分子杂交技术对1例高危胎儿进行产前检查的研究结果。RFLP连锁分析虽然提示胎儿已从其母亲处遗传到一个致病基因,但其父方的PAH基因尚不能阐明,PCR扩增PAH基因第3外显子以及旁侧共300bp的核苷酸顺序,然后与一对相应于上述特异突变型的寡核苷酸探针进行杂交。结果表明,胎儿从父亲处遗传到这个PAH 111 Arg→Ter基因,产前诊断胎儿为PKU患者。
The CGA→TGA mutation at codon 111 in exon 3 of the PAH gene was newly identified in a Chinese PKU patient. This paper reports a study of the prenatal diagnosis of a Chinese fetus at risk for PKU using PCR DNA amplification and oligonucleotide hybridization. RFLPs analysis revealed that the fetus had been inherited a PKU gene from his mother, but his paternal PAH gene was not informative. PCR amplification of a 300bp in length which included exon 3 plus the flanking intronic sequences of the PAH gene was performed. The amplified DNA was hybridized with a pair of allele specific oligonucleotide probes. The results indicated that the fetal DNA carried a PAH 111 Arg→Ter mutant gene inherited from his father. Thus, the fetus was predicted as a PKU patient.
出处
《遗传与疾病》
CSCD
北大核心
1990年第1期1-2,62+66,共2页
关键词
苯丙酮尿症
产前诊断
基因突变
PKU Gene mutation DNA amplification (PCR) Prenatal diagnosis
