中国宁夏地区视网膜色素变性患者基因突变频谱分析  

Gene mutation spectrum analysis of retinitis pigmentosa patients in Ningxia Region of China

作　　者：容维宁[1] 綦瑞 王晓光 房心荷 盛迅伦[1] Rong Weining;Qi Rui;Wang Xiaoguang;Fang Xinhe;Sheng Xunlun(Ningxia Eye Hospital,People's Hospital of Ningxia Hui Autonomous Region,First Affiliated Hospital of Northwest University for Nationalities,Ningxia Clinical Research Center on Diseases of Blindness in Eye,Ningxia 750001,China)

机构地区：[1]宁夏回族自治区人民医院宁夏眼科医院,西北民族大学第一附属医院,宁夏致盲性眼病临床医学研究中心,750001

出　　处：《中华实验眼科杂志》2019年第9期750-754,共5页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金项目(81760180)。

摘　　要：目的分析中国宁夏地区视网膜色素变性(RP)患者的基因突变频谱。方法纳入2015年1月至2016年12月在宁夏眼科医院就诊的55个家系和74例散发RP患者,采集家系相关成员病史资料,同期纳入200名无亲缘关系的健康成年人作为正常对照。进行裸眼视力和最佳矫正视力测定、眼底检查、光相干断层扫描、荧光素眼底血管造影和视觉电生理检查,采用Agilent液相捕获技术、PCR和直接测序技术对患者的基因突变位点进行检测和鉴定。结果检测到突变位点的RP家系共37个,其中常染色体显性遗传RP(ADRP)家系8个,检测到致病基因6个,均携带有单一的杂合突变;常染色体隐性遗传RP(ARRP)家系25个,检测到致病基因12个,以USH2A基因突变率最高,占28%(7/25),其次为EYS基因和MYO7A基因,占12%(3/25);X连锁遗传RP(XLRP)家系4个,均携带有RPGR基因纯合突变位点。散发RP患者49例,共检测到致病基因25个,其中USH2A基因突变率最高,占26.5%(13/49),其次为RP1基因,占8.1%(4/49)。结论中国宁夏地区RP患者以隐性遗传居多,USH2A基因是中国宁夏地区RP的主要致病基因。Objective To analysis the gene mutation spectrum of retinitis pigmentosa(RP)patients in Ningxia Region of China.Methods Fifty-five pedigrees and 74 sporadic RP patients were included in Ningxia Eye Hospital from January 2015 to December 2016.Two hundred unrelated healthy adults were enrolled as normal controls during the same period.The clinical features of patients and their family members were evaluated by ophthalmic examinations,including visual acuity,best corrected visual acuity,fundus examination,optical coherence tomography,fundus fluorescein angiography,and visual field and electroretinogram.The next generation sequencing,PCR and direct sequencing were used to confirm the pathogenic mutation.This study was approved by Ethic Committee of the Ningxia Eye Hospital(NO.20150107),and informed consent was obtained from each subject.Results The mutations were detected in 37 RP pedigrees,8 pedigrees showed autosomal dominant inheritance and 6 pathogenic genes were confirmed,all the autosomal dominant RP(ADRP)patients carried a single heterozygous mutation.Twenty-five pedigrees were autosomal recessive RP(ARRP)and 12 pathogenic genes were confirmed.Among ARRP patients,the mutations rate of USH2A gene was the highest,accounting for 28%(7/25),EYS gene and MYO7A gene accounted for 12%(3/25).Four X-linked RP(XLRP)pedigrees carried the homozygous mutations on RPGR gene.Twenty-five disease-causing genes were detected in 49 sporadic RP patients.The mutation rate of USH2A gene was the highest,accounting for 26.5%(13/49),followed by RP1 gene,accounting for 8.1%(4/49).Conclusions Recessive inheritance is the most common cause of RP.USH2A gene is the main pathogenic gene of RP in Ningxia region of China.

关 键 词：视网膜色素变性/遗传性 基因检测 中国宁夏 

分 类 号：R73[医药卫生—肿瘤]