着色性干皮病研究进展  

Research progress of xeroderma pigmentosa

作　　者：胡诗琪 洪培铭 蔡祥胜 杨翌[1] 谢英俊[1] HU Shiqi;HONG Peiming;CAI Xiangsheng;YANG Yi;XIE Yingjun(Guangzhou Institute of Obstetrics and Gynecology,Key Laboratory for Major Obstetric Diseases of Guangdong Province,Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes,The Third Affiliated Hospital of Guangzhou Medical University,Guangzhou,Guangdong 510150,China;Institute of Translational Medicine,University of Chinese academy of Sciences-Shenzhen Hospital,Shenzhen,Guangdong 518601,China)

机构地区：[1]广州医科大学附属第三医院妇产科研究所/广东省产科重大疾病重点实验室/广东省普通高校生殖与遗传重点实验室/广州医科大学附属第三医院,广东广州510150 [2]中国科学院大学深圳医院转化医学研究院,广东深圳518601

出　　处：《中国优生与遗传杂志》2023年第4期876-880,共5页Chinese Journal of Birth Health & Heredity

基　　金：广东省科学技术厅协同创新与平台环境建设-国际科技合作项目专题(2020A0505100062)。

摘　　要：着色性干皮病(XP)是一种发病率极低的罕见病,与DNA损伤修复有关。正常的哺乳动物对紫外线(UV)损伤是通过核苷酸切除修复(NER)的方式以预防皮肤癌,而XP患者在NER途径上有遗传缺陷、缺乏核酸酶而不能修复,使患者的皮肤癌更易发生。该病有多种亚型,不同基因型XP患者的修复能力也有差异。目前该病没有有效的治疗方式,主要在于早期诊断与预防。近年来,随着物理治疗、药物治疗和基因治疗等的出现,该病的治疗方式得到了新的发展。本文从该病的致病机制、研究现状、治疗方式等方向综述了该病的研究进展。Xeroderma pigmentosum(XP)is a rare autosomal recessive hereditary skin disease with a low incidence and is associated with defective repair of damaged DNA.In normal mammalian individuals,ultraviolet(UV)-induced DNA damage is almost completely cleared by the nucleotide excision repair(NER)pathway,which is necessary to prevent the development of skin cancer.However,XP patients have genetic defects in NER pathway,lack of nuclease and cannot be repaired,which makes them more likely to develop skin cancer.There are many subtypes of the disease,and the repair properties of XP patients with different genotypes are also different.At present,there is no effective treatment for the disease,which is mainly based on early diagnosis and prevention.In recent years,physical therapy,drug therapy and gene therapy have also been developed,which makes the treatment of XP develop.This article reviews the research progress of this disease from the direction of pathogenesis,research status and treatment.

关 键 词：着色性干皮病 XPC基因 基因治疗 

分 类 号：R758.58[医药卫生—皮肤病学与性病学]