CAJ | 학술논문

目的研究1个遗传性对称性色素异常症家系的ADAR1基因的突变.方法收集1个遗传性对称性色素异常症家系的血样,采用聚合酶链反应结合DNA直接测序的方法,检测了该家系中2例患者及2名表型正常者和50名无亲缘关系健康个体的ADAR1基因突变情况.结果该家系中2例患者均存在 ADAR1 基因c.3463C＞T突变,导致p.R1155W改变,而在家系内非患者及正常对照者中均未发现该突变.结论本研究中遗传性对称性色素异常症家系中患者ADAR1基因存在错义突变,这可能是导致遗传性对称性色素异常症发病的分子机制之一.
목적 연구1개유전성대칭성색소이상증가계적ADAR1기인적돌변.방법 수집1개유전성대칭성색소이상증가계적혈양,채용취합매련반응결합DNA직접측서적방법,검측료해가계중2례환자급2명표형정상자화50명무친연관계건강개체적ADAR1기인돌변정황.결과 해가계중2례환자균존재 ADAR1 기인c.3463C＞T돌변,도치p.R1155W개변,이재가계내비환자급정상대조자중균미발현해돌변.결론 본연구중유전성대칭성색소이상증가계중환자ADAR1기인존재착의돌변,저가능시도치유전성대칭성색소이상증발병적분자궤제지일.
Objective To analyze the mutation of the adenosine deaminase acting on RNA 1 (ADAR1) gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH). Methods Mutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls. Results A missense mutation of c. 3463C＞T, which results in p.R1155W in the ADAR1 protein, was found in the 2 patients, but was absent in the 2 healthy members in the family and 50 unrelated individuals. Conclusion A missense mutation of c.3463C＞T in the ADAR1 gene was detected in the DSH family, which is likely responsible for the pathogenesis of the disease.