HIV感染合并肾病患者载脂蛋白L1基因突变检测及其意义

Apolipoprotein L1 gene mutation and its significance in HIV-infected patients with nephropathy

目的了解本院HIV感染合并肾病患者载脂蛋白L1(APOL1)基因突变情况,探讨其与HIV感染患者合并肾病的相关性。方法检测8例HIV合并肾病患者肾活检组织的APOL1基因调控区和7号外显子,了解APOL1基因突变情况及其与HIV感染合并肾病的相关性。结果4例APOL1基因调控区检出A(-565)G突变,2例APOL1基因调控区检出T(-1157)C突变、G(-1024)T突变以及A(-765)C突变,3例APOL1基因7号外显子检出G496A突变、C702A突变、G732A突变、G812A突变、G1008A突变。结论本院HIV感染合并肾病患者缺乏HIVAN患者APOL1基因中的G1和G2突变,8例患者均检出其他类型突变,但这些突变与具体病理类型之间的关系仍待进一步研究。

Objective To investigate the apolipoprotein L1(APOL1)gene mutation in HIV-infected patients with nephropathy in our hospital,and its correlation with the comorbid nephropathy in HIV-infected patients.Methods APOL1 regulatory region and exon 7 were detected in renal biopsy tissues from eight HIV-infected patients with nephropathy.Thereby the APOL1 mutation was studied and its correlation with HIV infection and comorbid nephropathy was analyzed.Results Four patients had A(-565)G mutation in APOL1 regulatory region,two had mutations at T(-1157)C,G(-1024)T and A(-765)C in APOL1 regulatory region,thre had mutations at G496A,C702A,G732A,G812A and G1008A in the exon 7 of APOL1.Conclusion The HIV-infected patients with nephropathy in our hospital did not show G1 and G2 mutations of APOL1 gene as seen in HIV-associated nephropathy;all of the eight patients presented other types of mutation instead.The relationship between these mutations and specific pathology remains to be further studied.