摘要
目的 检测苯丙酮尿症(phenyl—ketonuria,简称PKU)患者的基因突变类型。方法采用PCR-SSCP(聚合酶链反应单链构象多态)银染和PCR-ASO(聚合酶链反应等位基因特异性寡核苷酸)探针杂交,分别检测了8个PKU家庭中10名患者和6名双亲。PCR—SSCP银染应用了3对引物,外显子7、11、12。PCR-ASO探针杂交应用了外显子7、10、11、12、4对探针。结果 王氏家系姐弟俩(表1中编号7,10)通过PCR-SSCP方法发现E_7区域有异常电泳带,经PCR-ASO方法证实他们和附图编号8均为苯丙氨酸羟化酶E7R243Q位点的纯合子突变;沈氏家系姐妹俩通过PCR-ASO法检出E12R413P位点为纯合子突变,另一例PKU患者为E12R413P位点的杂合子。结论 上述突变位点为PKU患者的产前基因诊断提供了依据。
To determine mutation gene of patients with PKU. Methods 10 patients and 6 parents from 8 families were examined with PCR-SSCP,PCR-ASO technique including primers of exon 7,11,12 and probes of exon 7,10,11,12. Results E7 abnormal electrophoretic mobility was found in two siblings from one family by PCR-SSCP. It watsdemonstrated that two siblings and another patient were homozygotes of exon 7 (R243Q) by PCR-ASO. Homozygotes E12(R413P)locus mutation were found in two siblings from another family and heterozygote was found in another patient. Conclusion E7(R243Q)and E12 (R413P)locus mutations may become a genetic mark for diagnosis of PKU.
