Thomson J R, Trembath R C
Division of Medical Genetics, Adrian Building, University of Leicester, Leicester LE1 7RH, UK.
J Clin Pathol. 2000 Dec;53(12):899-903. doi: 10.1136/jcp.53.12.899.
Primary pulmonary hypertension (PPH) represents the end stage of a disruption of pulmonary vascular integrity, of unknown cause. Although PPH is associated with several systemic disorders, there have hitherto been few clues as to the aetiological factors responsible for the pathogenesis of this condition. As an example of the application of modern molecular genetics and positional cloning, this leader describes the range of studies currently under way, which aim to find the gene that underlies PPH, and summarises the implications of the identification of such a gene.
原发性肺动脉高压(PPH)是肺血管完整性破坏的终末期表现,病因不明。虽然PPH与多种全身性疾病相关,但迄今为止,关于导致这种疾病发病机制的病因因素几乎没有线索。作为现代分子遗传学和定位克隆应用的一个例子,本述评描述了目前正在进行的一系列研究,这些研究旨在找到PPH的致病基因,并总结了鉴定出这样一个基因的意义。