摘要
目的报道2例脂蛋广1肾病（LPG）及其载脂蛋白E（apoE）的基因测序分析，探讨apoE基因突变与LPG发病之间的关系。方法①采用直接测序法分析2例经肾活检证实为LPG患者的apoE基因序列；②荟萃分析国内已发表的有关LPG患者apoE基因测序结果并复习国内外相关文献。结果2例LPG；患者中，1例携带一个已被报道过的apoE基因点突变，DNA序列为编码区C606T杂合子突变，致相应的氨基酸发生改变（Arg158Cys），另一例未发现apoE基因突变。结论LPG患者部分存在apoE基因编码区突变，部分未发现与国内外报道有关的apoE基因突变类型，说明LPG的发病机制可能不仅仅与apoE基因编码区突变有关。
Objective To report 2 patients with lipoprotein glomerulopathy（LPG） and analyze their apolipoprotein E（apoE） genes and to investigate the relationship between pathogenesis of LPG and apoE gene mutation. Methyl In 2 patients with LPG, direct sequencing method was used to detect apoE genes sequence;The internal literatures about apoE genes sequencing of patients with LPG were summarized and analyzed. Result A point mutation of apoE gene having been reported previously was identified in one patient. The heterozygene mutation has changed the coding region exons 4 gene C 606 T, resuhing in amino acids suhstitution（Arg 158 Cys）. Another one had not mutation in apoE gcne. Conclusion ApoE coding region mutation has been identified in some patients with LPG, but there is no mutation in part of the patients with LPG. The palhogenesis of LPG is not only correlated to apoE gene mutation, other factors may be involved in the pathogenesis of LPG.
出处
《临床肾脏病杂志》
2008年第7期303-306,共4页
Journal Of Clinical Nephrology
基金
四川省卫生厅基金资助项目（2006209-048）
关键词
脂蛋白肾病
载脂蛋白E
基因突变
Lipoprotein glomerulopathy
Apolipoprotein E
Gene mutation
