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人类血管紧张素II 1型(AT1)受体基因启动子多态性的特征分析

Characterization of polymorphisms in the promoter of the human angiotensin II subtype 1 (AT1) receptor gene.

作者信息

Erdmann J, Riedel K, Rohde K, Folgmann I, Wienker T, Fleck E, Regitz-Zagrosek V

机构信息

Department of Internal Medicine and Cardiology, Humboldt University, Germany.

出版信息

Ann Hum Genet. 1999 Jul;63(Pt 4):369-74. doi: 10.1046/j.1469-1809.1999.6340369.x.

Abstract

In this study eight sequence variants in the functional promoter of the human angiotensin II subtype 1 (AT1 or AGTR1) receptor gene are reported. Six of these variants are in nearly total linkage disequilibrium with each other and occur with a frequency of 15.7%. By haplotype estimation this group of eight sequence variants is characterized by only five haplotypes. There is no linkage disequilibrium between one of these haplotypes and the AT1 + 1166A/C variant. The finding of polymorphic sites in the functional promoter of the human AT1 locus will be beneficial to the study of the role of the AT1 receptor gene in hypertension and other cardiovascular diseases.

摘要

本研究报道了人类血管紧张素II 1型(AT1或AGTR1)受体基因功能启动子中的8个序列变异。其中6个变异彼此之间几乎完全连锁不平衡,出现频率为15.7%。通过单倍型估计,这一组8个序列变异仅由5种单倍型表征。这些单倍型之一与AT1 + 1166A/C变异之间不存在连锁不平衡。人类AT1基因座功能启动子中多态性位点的发现将有助于研究AT1受体基因在高血压及其他心血管疾病中的作用。

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