Mullins L J, Morley S D, Mullins J J
Centre for Genome Research, Edinburgh University, UK.
J Hum Hypertens. 1996 Oct;10(10):627-31.
Primary or "essential' hypertension is generally perceived to be a multifactorial or complex genetic trait. An individual's susceptibility to high blood pressure (BP) is influenced not only by the many genetic factors, which effect control through biochemical and physiological mechanisms, but also by environmental determinants. In a small proportion of human hypertensives the cause is a single genetic defect, exhibiting Mendelian characteristics. The vast heterogeneous majority, however, result from a multitude of contributing factors, making identification of the underlying etiology very difficult. We will briefly review a number of strategies which have helped to identify genetic factors involved in hypertension. These include the search for genetic defects in Mendelian forms of hypertension, intensive study of classical animal models such as the spontaneously hypertensive rat, and linkage analyses in animal models and hypertensive patients. We will then discuss the role which transgenesis can play in complementing and extending such analyses.
原发性或“特发性”高血压通常被认为是一种多因素或复杂的遗传性状。个体对高血压的易感性不仅受到许多通过生化和生理机制影响调控的遗传因素的影响,还受到环境因素的影响。在一小部分人类高血压患者中,病因是单一的遗传缺陷,表现出孟德尔遗传特征。然而,绝大多数情况是由多种因素共同作用导致的,这使得确定潜在病因非常困难。我们将简要回顾一些有助于识别与高血压相关的遗传因素的策略。这些策略包括寻找孟德尔形式高血压中的遗传缺陷、深入研究经典动物模型(如自发性高血压大鼠)以及在动物模型和高血压患者中进行连锁分析。然后我们将讨论转基因技术在补充和扩展此类分析中可以发挥的作用。