PKD2基因在正常人和2型常染色体显性遗传性多囊肾病患者肾组织中的表达

Expression of PKD2 gene in kidney tissue of normal human and patients with autosomal dominant polycystic kidney disease(type 2 )

目的 :观察 PK D2基因在正常人和 2型常染色体显性遗传性多囊肾病 (ADPKD)患者肾组织中的不同表达 ,探讨多囊肾病的发病机制。 方法 :抽提正常人肾组织细胞总 RNA ,通过 RT- PCR法获得 PK D 2基因第 12～ 13外显子 c DNA片段 ,以此为探针 ,用地高辛标记 ,对正常人和 2型 ADPKD患者肾组织分别进行原位杂交 ,并结合图像分析系统观察 PK D2基因表达情况。 结果 :正常人肾组织中 PK D2基因在 Henle襻的厚升支、远曲小管和皮质集合管有较强的表达 (平均光密度为 1.2 3± 0 .0 4 ) ;而 2型ADPKD患者肾组织中 PKD2基因仅在部分囊壁中有少量表达 (平均光密度为 0 .5 6± 0 .0 3)。 结论 :正常人肾组织中 PK D2基因表达量明显高于 2型 ADPKD患者 ,提示 PK D2基因表达降低在 2型

Objective:To study the expression of PKD 2 gene in the normal kidney tissue and the autosomal dominant polycystic kidney disease tissue(type 2). Methods: The expression of PKD 2 gene in the human renal tissue and the polycystic kidney tissue was detected by using in situ hybridization(ISH) with digoxigenin labelled probe. The probe was prepared by reverse transcription PCR(RT PCR).The results of ISH were analyzed by micromegakaryocytes. Results: PKD 2 gene was expressed in most nephron from normal human renal tissue,especially there was higher expression in the thick ascending limb of the loop of Henle,distal tubules including the distal convoluted tubule and cortical collecting tubules. But there was lower expression in a polycystic kidney tissue. Conclusion:Expression of PKD 2 in nomal human renal tissue is higher than that in the polycystic kidney tissue,this indicate that down regulation of PKD 2 play an important role during the developing of autosomal dominant polycystic kidney disease(type 2).