摘要
应用聚合酶链式反应—单链构象多态分析(PCR-SSCP分析)技术检测苯丙酮尿症患者和正常人苯丙氨酸羟化酶基因外显子7。在9例苯丙酮尿症患者中检出3例为突变纯合子,在正常人和苯丙酮尿症患者中均检出DNA多态。研究结果对苯丙酮尿症的基因诊断和突变基因分析有重要应用价值。
DNA samples from 9 patients with phenylketonuria (PKU) and 22 normal subjects were amplified by polymerase chain reaction (PCR)with a set of primers flanking the exon 7 of the human phenylalanine hydroxylase gene. The amplified products were further investigated by PCR-SSCP (single-strand conformation polymorphism)analysis. A single-strand band pattern representing the mutation of the gene was detected in 3 cases with PKU. Auother pattern derived from DNA polymorphism was detected both in PKU cases and in normal subjects.The result was valuable in prenatal diagnosis of PKU.
出处
《中国医科大学学报》
CAS
CSCD
1992年第3期169-171,共3页
Journal of China Medical University
基金
国家"八五"攻关课题
关键词
苯丙氨酸
羟化酶基因
突变
phenylalanine hydroxy lase gene
PCR-SSCP analysis
