在患有 CAKUT 的儿童的病变组织中检测 AT2R mRNA 的表达谱。
Expression profiling of the AT2R mRNA in affected tissue from children with CAKUT.
机构信息
Vinca Institute of Nuclear Sciences, Laboratory for Radiobiology and Molecular Genetics, 11001 Belgrade, Serbia.
出版信息
Clin Biochem. 2010 Jan;43(1-2):71-5. doi: 10.1016/j.clinbiochem.2009.09.009. Epub 2009 Sep 23.
OBJECTIVES
Congenital anomalies of the kidney and urinary tract (CAKUT) are common causes of chronic renal failure in children. The angiotensin II receptor type 2 (AT2R) is one of proposed candidate genes for CAKUT, but the expression was never explored in humans. The aim was to establish the AT2R gene expression in human CAKUT concerning -1332A/G polymorphism, which might affect alternative splicing.
DESIGN AND METHODS
Forty-eight patients with CAKUT constitute the basis of this study. Genotyping for -1332A/G, RT-PCR for AT2R gene expression and confirmation sequencing were performed.
RESULTS
The expression of Ex 1/2/3 and Ex 1/3 transcript splice variants of the AT2R mRNA were detected in human CAKUT tissue. The pattern was observed independently of A to G transition.
CONCLUSIONS
The expression of AT2R mRNA in human CAKUT was established for the first time and was not affected by -1332A/G polymorphism in children with CAKUT.
目的
先天性肾和尿路畸形（CAKUT）是儿童慢性肾衰竭的常见原因。血管紧张素 II 受体 2（AT2R）是 CAKUT 的候选基因之一，但在人类中从未探索过其表达。本研究旨在探讨人类 CAKUT 中 AT2R 基因表达与 -1332A/G 多态性的关系，该多态性可能影响选择性剪接。
设计与方法
本研究基础为 48 例 CAKUT 患者。进行 -1332A/G 基因分型、AT2R 基因表达的 RT-PCR 及确认测序。
结果
在人类 CAKUT 组织中检测到 AT2R mRNA 的 Ex1/2/3 和 Ex1/3 转录剪接变体的表达。这种模式独立于 A 到 G 的转换而存在。
结论
本研究首次建立了人类 CAKUT 中 AT2R mRNA 的表达，且在 CAKUT 患儿中不受 -1332A/G 多态性的影响。
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