视网膜色素变性患者RP1基因突变位点与临床表型相关性初探  

Preliminary study on the correlation between RP1 gene mutation and clinical phenotype in patients with retinitis pigmentosa

作　　者：崔福玲[1] 孟令强 王静[3] 马志国[4] CUI Fuling;MENG Lingqiang;WANG Jing;MA Zhiguo(Department of Rehabilitation Medicine,Binzhou People′s Hospital,Binzhou,Shandong 256610,China;Department of Clinical Laboratory,Dongying Hospital of Traditional Chinese Medicine,Dongying,Shandong 257000,China;Department of Ophthalmology,Dezhou People′s Hospital,Dezhou,Shangdong 253000,China;Department of Clinical Laboratory,Dezhou People′s Hospital,Dezhou,Shangdong 253000,China)

机构地区：[1]山东省滨州市人民医院康复医学科,山东滨州256610 [2]山东省东营市中医院检验科,山东东营257000 [3]山东省德州市人民医院眼科,山东德州253000 [4]山东省德州市人民医院检验科,山东德州253000

出　　处：《国际检验医学杂志》2022年第2期234-238,共5页International Journal of Laboratory Medicine

摘　　要：目的探索视网膜色素变性1基因(RP1)的新突变及其与特殊临床表型的相关性。方法将2018年1月至2019年7月在山东省滨州市人民医院眼科确诊的视网膜色素变性的25个家系的86例患者纳入研究,收集临床相关资料。采用高通量二代基因测序对患者及家系样本进行基因测序,用Sanger验证确认基因变异位点,并进一步分析患者相关致病基因变异与临床表型。最后用Next GENe5.4.5分析软件分析基因变异与特殊临床表型的相关性。结果在本研究纳入的25个家系先证者中,检出RP1基因中有9个未报道致病基因突变位点,即c.1419_1420delTG、c.2886delA、c.4129delG、c.4168_4169insT、c.4169A>G、c.4196delG、c.6353G>A、c.2624A>T、c.5699C>T。患者表现为黄斑严重萎缩、动脉血管萎缩明显等特殊临床表型。结论发现中国人群中视网膜色素变性RP1基因中9个未报道致病基因突变位点。Objective To explore the correlation between genotype of new variants of retinitis pigmentosa-1 gene(RP1)in retinitis pigmentosa and specific clinical phenotypes in Chinese population.Methods A total of 86 patients from 25 families with retinitis pigmentosa diagnosed in Shandong Binzhou People′s Hospital from January 2018 to July 2019 were recruited in the study.Clinical data were collected and analyzed.High-throughput Next-Generation Sequencing technology was used to sequence the genes of patients and family samples.Sanger verification was used to confirm the gene variation sites,and the related pathogenic gene variation and clinical phenotype of patients were further analyzed.Finally,Next GENe5.4.5 analysis software was used to analyze the correlation between gene variation and special clinical phenotype.Results Among the 25 proband in this study,9 likely pathogenic variants was found in RP1 gene,namely c.1419_1420delTG,c.2886delA,c.4129delG,c.4168_4169insT,c.4169A>G,c.4196delG,c.6353G>A,c.2624A>T,c.5699C>T.The patient showed special clinical phenotypes such as severe macular atrophy,obvious arterial atrophy and so on.Conclusion Nine new likely pathogenic mutations in RP1 gene in Chinese pupoltaion are found.

关 键 词：视网膜色素变性1基因 二代基因测序技术 视网膜色素变性 

分 类 号：R774.1[医药卫生—眼科]