ROLE OF PPH1 GENE IN PULMONARY HYPERTENSION

摘要

This invention provides a method of detecting whether a subject is either predisposed to or afflicted with a pulmonary disease which comprises: 1) obtaining a suitable sample from the subject; 2) detecting in the sample a bone morphogenetic protein receptor-II mutation which is not present in wildtype bone morphogenetic protein receptor-II, wherein the presence of a mutation indicates that the subject is predisposed to or afflicted with the pulmonary disease. In one embodiment, the pulmonary disease is Familial Primary Pulmonary Hypertension.