Vinca Institute of Nuclear Sciences, Laboratory for Radiobiology and Molecular Genetics, 11001 Belgrade, Serbia.
Clin Biochem. 2010 Jan;43(1-2):71-5. doi: 10.1016/j.clinbiochem.2009.09.009. Epub 2009 Sep 23.
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.
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.
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.
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.
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。
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。
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。
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。
