Leader

Primary pulmonary hypertension: the pressure rises for a gene

J R Thomson¹, R C Trembath¹

¹ Division of Medical Genetics, Adrian Building, University of Leicester, Leicester LE1 7RH, UK

Correspondence to:
Dr Thomson jrt10{at}leicester.ac.uk

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 desribes 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.

Key Words: pulmonary hypertension • genetics • chromosome 2q33

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