ACTN4基因184T>A突变与儿童局灶节段性肾小球硬化的关系  

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

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

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31期38-40,共3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(α-actinin-4,ACTN4)基因杂合突变184T>A与儿童原发性局灶节段性肾小球硬化(focal segmental glomerulosclerosis,FSGS)的关系及其发生率。方法收集2014年3月-2016年7月于黑龙江省医院肾内科及儿科经肾穿刺活检确诊为原发性FSGS的儿童患者50例,选取同时期于本院进行疫苗接种的健康儿童40例作为对照组,同时蛋白酶-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,聚合酶链式反应扩增后进行测序,若发现突变,氯酚法提取父母头发DNA检测ACTN4基因。结果 50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5个单核苷酸多态:rs761625093、rs771782889、rs111387742、rs759055242,rs550398621,其中rs759055242和rs550398621导致编码氨基酸改变。结论 ACTN4基因第2外显子区184T>A(Ser62Thr)突变在儿童原发性FSGS患者中的发生率较低,因此不是引起本中心儿童原发性FSGS的常见突变。Objective To investigate the relationship between primary focal segmental glomerulosclerosis（FSGS） in children and the heterozygous mutation 184T〉A in ACTN4 gene and calculate the mutation rate. Methods Fifty patients with primary FSGS in the Heilongjiang Province Hospital from March 2014 to July 2016 were enrolled in the study, forty healthy children enrolled as control group from the Heilongjiang Province Hospital 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 GeneBank 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 had the heterozygous mutation 184T〉A with amino acid substitution （Ser62Thr）, but the mutation was not found in her parents and the control group. Five SNPs were recognized, including rs761625093, rs771782889, rs111387742, rs759055242, rs550398621.The rs759055242 and rs550398621 can cause the amino-acid substitution. Conclusion The heterozygous mutation 184T〉A （Ser62Thr） in ACTN4 exon 2 was not the common mutation of primary focal segmental glomerulosclerosis patients in children in our hospital.

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：R692.6[医药卫生—泌尿科学]