摘要
目的对1例经肾活检确诊的藏族脂蛋白肾病(lipoprotein glomerulopathy,LPG)患者进行APOE基因的变异检测,并探讨其发病机制。方法收集患者的临床及病理诊断资料,对患者的外周血DNA进行PCR扩增和Sanger测序。用生物信息学软件分析变异的致病性,探讨其对ApoE蛋白的影响。结果患者肾活检明确为LPG。基因测序显示其携带APOE基因Os aka/Kurashiki(c.527G>C,p.R176P)杂合变异。既往已发现4例LPG患者携带同样的变异,所编码的氨基酸(p.176R)在进化中高度保守。SIFT、PolyPhen2及PANTHER软件均预测该变异为致病性。结论本例患者的发现进一步支持APOE Osaka/Kurashiki为致病性,更重要的是为LPG相关的APOE变异的多种族起源提供了新的证据。
Objective To detect variant of APOE gene in a Chinese Tibetan patient with lipoprotein glomerulopathy(LPG)confirmed by renal biopsy and to explore its pathogenesis.Methods Clinical and pathological data was collected.DNA was extracted from peripheral blood subjected to PCR and Sanger sequencing.Pathogenicity of the variant was software.Results Renal biopsy of the patient has confirmed the diagnosis suggested that the patient has carried a heterozygous c.5270C(p.R176P)(APOE Osaka/Kurashiki).Four sample of the patient and analyzed by bioinformatics of LPG.DNA sequencing variant of the APOE gene cases of LPG have been found to carry the same variant,and the encoded amino acid(p.176R)is highly conserved during evolution.Bioinformatic analysis using SIFT,PolyPhen2 and PANTHER software all predicted the variant to be pathogenic.Conclusion The discovery of author's patient provided further evidence for the pathogenicity of APOE Osaka/Kurashiki and,more importantly,provide new evidence for the multiracial origin of LPG-related APOE variants.
作者
杨智
吴鸿雁
胡章学
Yang Zhi;Wu Hongyan;Hu Zhangxue(Department of Nephrology,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第2期166-169,共4页
Chinese Journal of Medical Genetics
