深圳地区人群苯丙酮尿症患者基因分析

Analysis on PAH gene of PKU patients in Shenzhen city

摘要:
目的探讨深圳地区苯丙酮尿症(PKU)患者血苯丙氨酸羟化酶(phenylalanine hydroxylase, PAH)基因单核苷酸多态性位点.
方法设计7对引物, 应用多聚酶链反应-单链构像多态(PCR-SSCP)银染技术和DNA序列分析了3个PKU家族共13个成员的PAH基因.
结果 PCR-SSCP分析发现, 其中2个家族的子女及其父母有电泳条带异常, 测序结果示两多态性位点均在内含子10上.
结论 2种突变类型可能为单核苷酸变化.

Abstract:
Objective To detect PAH gene point mutation of phenylalanine hydroxylase of PKU patients in Shenzhen city.
Methods Using 7 pairs of primers, thirteen members from 3 families were analyzed by using PCR-SSCP and silver staining.
Results Of the 3 families, point mutations were found in only 2 families, one located on intron 10, the other located on intron 11.
Conclusion The DNA point mutations may be single nucleotide polylnorphism sites.