Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32 - PubMed (original) (raw)
Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32
J H Morse et al. Circulation. 1997.
Abstract
Background: The pathogenesis of primary pulmonary hypertension (PPH) is unknown, although in some instances families with multiple affected members suggest a genetic etiology.
Methods and 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.
Similar articles
- Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33.
Deng Z, Haghighi F, Helleby L, Vanterpool K, Horn EM, Barst RJ, Hodge SE, Morse JH, Knowles JA. Deng Z, et al. Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):1055-9. doi: 10.1164/ajrccm.161.3.9906051. Am J Respir Crit Care Med. 2000. PMID: 10712363 - Familial primary pulmonary hypertension locus mapped to chromosome 2q31-q32.
Morse JH, Jones AC, Barst RJ, Hodge SE, Wilhelmsen KC, Nygaard TG. Morse JH, et al. Chest. 1998 Jul;114(1 Suppl):57S-58S. doi: 10.1378/chest.114.1_supplement.57s. Chest. 1998. PMID: 9676630 No abstract available. - A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.
Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC. Machado RD, et al. Genomics. 2000 Sep 1;68(2):220-8. doi: 10.1006/geno.2000.6291. Genomics. 2000. PMID: 10964520 - QTL influencing blood pressure maps to the region of PPH1 on chromosome 2q31-34 in Old Order Amish.
Hsueh WC, Mitchell BD, Schneider JL, Wagner MJ, Bell CJ, Nanthakumar E, Shuldiner AR. Hsueh WC, et al. Circulation. 2000 Jun 20;101(24):2810-6. doi: 10.1161/01.cir.101.24.2810. Circulation. 2000. PMID: 10859286 - Genetics and immunogenetic aspects of primary pulmonary hypertension.
Barst RJ, Loyd JE. Barst RJ, et al. Chest. 1998 Sep;114(3 Suppl):231S-236S. doi: 10.1378/chest.114.3_supplement.231s. Chest. 1998. PMID: 9741574 Review.
Cited by
- Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K, Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, Egan J, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC. Thomson JR, et al. J Med Genet. 2000 Oct;37(10):741-5. doi: 10.1136/jmg.37.10.741. J Med Genet. 2000. PMID: 11015450 Free PMC article. - Primary Pulmonary Hypertension.
Rich S. Rich S. Curr Treat Options Cardiovasc Med. 2000 Apr;2(2):135-140. doi: 10.1007/s11936-000-0006-1. Curr Treat Options Cardiovasc Med. 2000. PMID: 11096518 - Primary pulmonary hypertension.
Peacock AJ. Peacock AJ. Thorax. 1999 Dec;54(12):1107-18. doi: 10.1136/thx.54.12.1107. Thorax. 1999. PMID: 10567632 Free PMC article. Review. No abstract available. - In Silico identification of angiotensin-converting enzyme inhibitory peptides from MRJP1.
Tahir RA, Bashir A, Yousaf MN, Ahmed A, Dali Y, Khan S, Sehgal SA. Tahir RA, et al. PLoS One. 2020 Feb 3;15(2):e0228265. doi: 10.1371/journal.pone.0228265. eCollection 2020. PLoS One. 2020. PMID: 32012183 Free PMC article. - Gestational pulmonary arterial hypertension.
Moll M, Payne JG, Tukey MH, Farber HW. Moll M, et al. Pulm Circ. 2015 Dec;5(4):730-3. doi: 10.1086/683689. Pulm Circ. 2015. PMID: 26697182 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous