辅肌动蛋白4基因184T>A突变与原发性FSGS的关联研究  

The Relationship Between Primary Focal Segmental Glomerulosclerosis and the Mutation 184T>A in ACTN4 Gene

作　　者：柳春艳[1] 郝丽荣[2] 吕慧妍[2] 孙敏[3] 贾玲[4] 安晓霞[5] 

机构地区：[1]黑龙江省医院血液透析室,黑龙江哈尔滨150001 [2]哈尔滨医科大学附属第一医院肾内科,黑龙江哈尔滨150007 [3]黑龙江省医院肾内科,黑龙江哈尔滨150001 [4]黑龙江省医院护理部,黑龙江哈尔滨150001 [5]黑龙江省医院皮肤科,黑龙江哈尔滨150001

出　　处：《中国继续医学教育》2017年第33期47-50,共4页China Continuing Medical Education

基　　金：黑龙江省卫生厅课题(2009-499)

摘　　要：目的研究辅肌动蛋白4(ACTN4)基因杂合突变184T>A与原发性局灶节段性肾小球硬化(FSGS)的关系及其发生率。方法收集2012年1月—2016年6月于黑龙江省医院肾内科和哈尔滨医科大学附属第一医院肾内二科经肾穿刺活检确诊为原发性FSGS患者78例,同时期在两所医院体检中心选取健康人68例作为对照组,蛋白酶-盐析法提取外周血白细胞基因组DNA,设计ACTN4基因第2外显子区引物,聚合酶链式反应(PCR)扩增后进行测序发现突变,氯酚法提取父母头发DNA检测ACTN4基因。结果 78例原发性FSGS患者中检测到1例患者存在ACTN4基因第2外显子区杂合突变184T>A,导致编码蛋白质ACTN4的第62位氨基酸由丝氨酸突变为苏氨酸。患者父母,健康对照组均未检测到相同突变,其余FSGS患者未检测到新的致病突变。此外,共发现4个单核苷酸多态:rs2112649、rs761625093、rs146499679和rs781451819,其中rs146499679导致编码氨基酸改变。结论 ACTN4基因第2外显子区184T>A(Ser62Thr)突变在原发性FSGS患者中的发生率较低,因此不是引起本次研究原发性FSGS的突变的主要原因。Objective To investigate the relationship between primary focal segmental glomerulosclerosis （FSGS） and the heterozygous mutation 184T〉A in ACTN4 gene and calculate the mutation rate. Methods Seventy-eight patients with primary FSGS in the Heilongjiang Province Hospital and the First Affiliated Hospital of Harbin Medical University from January 2012 to June 2016 were enrolled in the study, including 45 males and 33 females, ranging from 14 to 70 years old Sixty-eight healthy volunteers were enrolled as control group from Medical Examination Centers of the two hospitals in the same period. Genomic DNA was isolated from peripheral blood leukocytes from primary FSGS patients and healthy volunteers. Using the software to design primers for ACTN4 exon 2.Polymerase chain reaction（PCR） was used to amplify the exon 2.The products were purified and then sequenced to compare with Gene Bank to determine whether any mutation was existed. Once the patients have the mutation 184T〉A, the hair DNA of their parents were sequenced in the same way. Results One patient have the heterozygous mutation 184T〉A with amino acid substitution （Ser62Thr）, but the mutation was not found in her parents and the control group our SNP were recognized, including rs2112649,rs761625093,rs781451819 and rs146499679.Only the rs146499679 can cause the amino-acid substitution （lle71Met）. Conclusion The heterozygous mutation 184T〉A （Ser62Thr） in ACTN4 exon 2 was not the common mutation this study main focal segmental glomerulosclerosis patients.

关 键 词：肾小球硬化症 局灶节段性 ACTN4基因 第2外显子 突变 

分 类 号：R692[医药卫生—泌尿科学]