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目的:通过对脂蛋白肾病患者载脂蛋白E(apoE)基因的全长序列分析,探讨apoE基因突变与脂蛋白肾病发病之间的关系。方法:对5例正常对照和17例脂蛋白肾病患者的apoE基因全长经PCR扩增后进行测序分析。结果:①与正常对照相比,17例脂蛋白肾病患者未发现存在apoE基因突变;②未发现国外已报道的脂蛋白肾病相关apoE基因突变类型;③中国汉族人apoE基因与GenBank中相应基因序列有10处非编码区的序列差异,这种差异在正常人和脂蛋白肾病患者之间无差异。结论:①在本研究范围内,未发现脂蛋白肾病患者存在apoE基因突变;②apoE基因非编码区在不同种族间存在差异。
OBJECTIVE: To investigate the relationship between apoE gene mutation and the incidence of lipoprotein nephropathy by analyzing the full-length apolipoprotein E (apoE) gene in patients with lipoprotein nephropathy. Methods: The apoE gene of 5 normal controls and 17 patients with lipoprotein nephropathy were amplified by PCR and sequenced. Results: ①ApoE gene mutation was not found in 17 patients with lipoprotein nephropathy compared with normal control; ②ApoE gene mutation type related to lipoprotein nephropathy reported in foreign countries was not found; ③ApoE gene in Chinese Han population was related to the corresponding gene sequence in GenBank There are 10 non-coding regions of sequence differences, this difference between normal and lipoprotein nephropathy patients no difference. Conclusions: ① There is no apoE gene mutation found in patients with lipoprotein nephropathy within the scope of this study; ② The non-coding region ofapoE gene is different among different races.