三个亨廷顿舞蹈病家系APEX基因氧化还原功能区变异检测

Detection of redox domain of aprimidinic / apurinic endonuclease / redox factor-1 gene in three HD pedigrees

目的:探讨脱嘌呤/嘧啶核酸内切酶(APEX)基因氧化还原功能区变异与亨廷顿舞蹈病的关系。方法:采用单链构象多态性(SSCP)-DNA测序的方法检测3个亨廷顿舞蹈病家系中10名患者和26名家系内健康人外周血APEX基因氧化还原功能区变异。结果:所有样本APEX基因3个外显子扩增片段均未发现变异。结论:3个亨廷顿舞蹈病家系内患者中无APEX基因氧化还原功能区的变异。

Aim： To investigate the relationship between mutation in the redox domain of aprimidinic /apurinic endonu-clease / redox factor-1 gene and Huntington＇s disease. Methods： The peripheral blood samples from 10 patients and 26 healthy individuals from three HD pedigrees were screened for genetic polymorphisms or mutations in the redox domain by single strand conformation polymorphism（ SSCP）-DNA sequencing. Results： No mutations of three exons of the APEX gene was detected. Conclusion： There is no mutation of aprimidinic / apurinic endonuclease / redox factor-1 gene in patients from the 3 HD pedigrees.