荧光MGB探针实时PCR检测经典型苯丙酮尿症的基因突变

Detection the Mutation in Classic PKU Gene with Fluorescent MGB Probe Real-Time PCR

【目的】探讨荧光MGB探针实时PCR技术检测经典型苯丙酮尿症的基因突变。【方法】运用荧光MGB探针实时PCR检测经典型苯丙酮尿症33例,一级亲属43例,正常对照30例。检出R243Q突变的PCR标本进行测序验证。【结果】发现11例PKU具有R243Q突变,突变频率为33%,其中突变纯合子4例,突变杂合子7例,一级亲属检出R243Q杂合子突变9例,正常人未发现R243Q突变。所有突变均经测序证实。【结论】PAH基因第7外显子的R243Q点突变在中国PKU患者中有较高的突变率;荧光MGB探针实时PCR是PKU的基因诊断良好技术平台。

To develop a fluorescent MGB probe real time PCR platform for detection the mutation of phenylalanine hydroxylase gene in patients with phenylketonuria.Fluorescent MGB probe real time PCR technology was used to detect the mutant allele in 33 classic Phenylketonuria patients and 43 parents,30 normal controls. All mutant alleles were confirmed by sequencing. 11 PKU had R243Q mutation, mutant rate was 33%,including 4 homozygous mutant alleles and 7 heterozygous mutant alleles.9 Parents had R243Q heterozygous mutant alleles. The controls were all normal. All mutations were confirmed by direct sequencing.[Conclusion]The R243Q mutations in Exon 7 may be one of mutation hot spots in Chinese PKU. Fluorescent MGB probe real time PCR technology can be applied in the diagnosis of PKU.