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目的:探讨特发性局灶节段性肾小球硬化(idiopathic FSGS)中SYNPO基因变异和多态(SNP)特点。方法:以82例特发性FSGS和70例健康人为研究对象。盐析法提取外周血基因组DNA、引物设计、PCR扩增后测序。基因数据库匹配筛选,结合患者肾组织Synaptopodin和患者父母头发DNA检测验证其致病意义。SNP位点H-W平衡检验后行基因频率、基因型和临床表型关联分析。结果:1例5′UTR变异1-24G>A,其父母未发现相同变异,肾组织Synaptopodin较正常和非变异NSFSGS组下降(321.33±18.01比514.00±31.21,P<0.01);1例单核苷酸变异437C>T(Pro146Leu),肾组织Synaptopodin较正常和非变异非NSFSGS组下降(385.67±15.95比635.50±23.95,P<0.01);1例单核苷酸变异1903A>C(Thr635Pro),其父母未发现相同变异,肾组织Synaptopodin较正常和非变异NSFSGS组明显下降(160.67±27.68比514.00±31.21,P<0.01);另外发现1例新同义变异1488C>T(Thr496Thr)和5例同义变异1578C>T(Pro526Pro)。未发现疾病易感SNP位点。结论:散发性FSGS患者中可能存在SYNPO基因致病变异位点,其可能在散发性FSGS发病中起作用。
Objective: To investigate the characteristics of SYNPO gene mutation and polymorphism (SNP) in idiopathic FSGS. Methods: 82 cases of idiopathic FSGS and 70 healthy subjects were studied. Saline extraction of genomic DNA from peripheral blood, primer design, PCR amplification and sequencing. Gene database matching screening, combined with the patient’s kidney tissue Synaptopodin and the patient’s hair DNA test to verify its pathogenic significance. SNP loci H-W balance test line gene frequency, genotype and clinical phenotype association analysis. Results: One case of 5’UTR mutation 1-24G> A, the parents did not find the same mutation, Synaptopodin renal tissue decreased compared with normal and non-variant NSFSGS group (321.33 ± 18.01 vs 514.00 ± 31.21, P <0.01) Synaptopodin in renal tissue was lower than that in normal and non-non-NSFSGS group (436C ± 13.95, 385.67 ± 15.95 vs 635.50 ± 23.95, P <0.01); 1 case of single nucleotide variation 1903A> Synaptopodin in renal tissue was significantly lower than that in normal and non-variant NSFSGS group (160.67 ± 27.68 vs. 514.00 ± 31.21, P <0.01). One new synonymous mutation, 1488C> T (Thr496Thr) and 5 Synonymous Variation 1578C> T (Pro526Pro). No disease susceptible SNPs were found. CONCLUSIONS: SYNPO gene pathogenic sites may exist in patients with sporadic FSGS, which may play a role in the pathogenesis of sporadic FSGS.