苯丙酮尿症的基因诊断

Gene Diagnosis of Phenylketonuria

应用生物素—链抗生物素蛋白系统的固相技术,对PCR扩增后DNA片段进行直接顺序分析,检测了东北地区13例经典型PKU患者PAH基因点突变.结果表明;13例PKU患者中检出7种点突变,发现7种PAH基因突变组合类型,其中突变R243Q、R413P、Y204C和R111X是分别位于PAH基因第7、12、6和3外显子处的4种常见突变.本研究准确可靠地确定了PAH基因分子缺陷的遗传机理,为该疾病的基因诊断和基因治疗提供了科学依据.

Direct sequencing was conducted on DNA fragments amplified by the poly-merase chain reaction, using solid phase technology involving the biotion-streptaviin system, we detected PAH gene point mutations in 13 PKU patients of north China. The results showed that seven PAH gene point mutations and seven kinds of mutant types were found in 13 cases. The mutations of R243Q,R413P,Y204C and R111X were most common mutations respectively located in exon 7, 12, 6 and 3 of the PAH gene. This study determined genetic mechanism of molecular defect in PAH gene correctly and reliably, the results provided scientific evidence for gene diagnosis and treatment of PKU.