caa a22 4500 467986304 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205179 doi (NATIONALLICENCE)springer-10.1007/BF00205179 The Na+/H+ antiporter: a "melt” polymorphism allows regional mapping to the short arm of chromosome 1 [Elektronische Daten] [Christopher Dudley, Luis Giuffra, Patricia Tippett, Kenneth Kidd, Stephen Reeders] Summary: The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 base pair fragment corresponding to the 5′ end of APNH. We have detected a polymorphism within this fragment by denaturing gradient gel electrophoresis. Using polymorphisms at other 1p loci (ALPL, the gene for alkaline phosphatase, RH and D1S57), we have been able to map APNH telomeric to D1S57 and close to RH and ALPL by genetic linkage. APNH is a plausible candidate gene for human essential hypertension; the APNH polymorphism combined with a knowledge of its genetic map location allow this candidate to be tested in hypertensive kindreds and sib-pairs. Springer-Verlag, 1990 Dudley Christopher Department of Internal Medicine, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut Giuffra Luis Department of Human Genetics, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut Tippett Patricia MRC Blood Group Unit, The University College of London, NW1 2HE, London, UK aut Kidd Kenneth Department of Human Genetics, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut Reeders Stephen Department of Internal Medicine, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut Human Genetics Springer-Verlag 86/1(1990-11-01), 79-83 0340-6717 86:1<79 1990 86 439 https://doi.org/10.1007/BF00205179 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205179 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dudley Christopher Department of Internal Medicine, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut NATIONALLICENCE 700 1- Giuffra Luis Department of Human Genetics, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut NATIONALLICENCE 700 1- Tippett Patricia MRC Blood Group Unit, The University College of London, NW1 2HE, London, UK aut NATIONALLICENCE 700 1- Kidd Kenneth Department of Human Genetics, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut NATIONALLICENCE 700 1- Reeders Stephen Department of Internal Medicine, Yale University School of Medicine, 333 Cedar Street, 06510, New Haven, CT, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 79-83 0340-6717 86:1<79 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer