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目的通过对家族性局灶节段性肾小球硬化(FFSGS)一个家系患者中出现相关肾脏病变表现的患者的人辅肌动蛋白α4(ACTN-4)基因进行分析,明确ACTN-4与FFSGS的关系。方法通过对该家族全部50名家庭成员进行临床检查,筛查出所有出现肾脏累及的患者,采取其外周血标本,对ACTN-4相关基因进行连锁分析,以明确该家族中是否存在ACTN-4基因变异而导致FSGS。结果该家族的遗传方式为常染色体显性遗传。50名此家族中的家庭成员有10例出现肾脏损害。其中,先证者22岁发现肌酐升高,对此家族中全部10例出现肾脏受累的患者应用PCR技术进行ACTN-4基因的连锁分析,发现该家族的ACTN-4存在184T>A(S62T)突变。结论该家族FSGS的发病与ACTN-4基因的变异有关。
Objective To analyze the ACTN-4 gene in patients with familial focal segmental glomerulosclerosis (FFSGS) in a pedigree with associated nephropathy and to determine whether ACTN-4 interacts with FFSGS Relationship. Methods All the 50 family members of this family were screened out and all the patients with renal involvement were screened. Peripheral blood samples were taken and the ACTN-4 related genes were analyzed by linkage analysis to find out whether there is ACTN-4 Gene mutation causes FSGS. Results The family’s inheritance was autosomal dominant. Ten of the 50 family members in this family had kidney damage. Among them, probands found that creatinine was elevated at the age of 22 years. PCR-based analysis of the ACTN-4 gene in all 10 patients with renal involvement in this family showed that there was 184T> A (S62T) in ACTN- mutation. Conclusion The incidence of FSGS in this family is related to the mutation of ACTN-4 gene.