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Figure 1 The process leading to the discovery of mutations in bone morphogenetic protein receptor type-2 (BMPR2) as the cause of familial primary pulmonary hypertension is depicted. Collection of deoxyribonucleic acid from families with sufficient numbers of affected and unaffected members allowed linkage studies using microsatellite markers that led to identification of a chromosome interval on chromosome 2, at q31–32. Candidate genes known from the Human Genome Project (HGP) in the interval were then identified and tested by deoxyribonucleic acid sequencing. Point mutations in exons of the BMPR2 gene were found that co-segregated with affected individuals known from the family pedigrees.
