title: Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32.
abstract: BACKGROUND
  The pathogenesis of primary pulmonary hypertension (PPH) is unknown, although in some instances families with multiple affected members suggest a genetic etiology.
  
  
  RESULTS
  We used microsatellite markers and linkage analysis in a large family with PPH to determine the chromosomal location of their disease gene. We tested a second, ethnically distinct, family for cosegregation of disease with markers from the linked region. We mapped the disease locus PPH1; GDB/HUGO designation (GDB:1381541; July 1996), approved when this work was accepted for publication in abstract form (Circulation. 1996;94[suppl I]:1-49.), in these families to a 27-cM region on chromosome 2q31-q32, with a maximum lod score of 3.87 associated with markers D2S350 and D2S364.
  
  
  CONCLUSIONS
  Cosegregation of this region with disease in different ethnic groups suggests that we mapped an important locus in familial PPH. Careful study of additional families and sporadic cases will be required to confirm this localization of PPH1 and characterize its overall role.
authors.affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. jhm4@columbia.edu
authors.forename: J H
authors.initials: JH
authors.lastname: Morse
authors.forename: A C
authors.initials: AC
authors.lastname: Jones
authors.forename: R J
authors.initials: RJ
authors.lastname: Barst
authors.forename: S E
authors.initials: SE
authors.lastname: Hodge
authors.forename: K C
authors.initials: KC
authors.lastname: Wilhelmsen
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
mesh_terms: D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree