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.
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Dudley, C.R.K., Giuffra, L.A., Tippett, P. et al. The Na+/H+ antiporter: a “melt” polymorphism allows regional mapping to the short arm of chromosome 1. Hum Genet 86, 79–83 (1990). https://doi.org/10.1007/BF00205179
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DOI: https://doi.org/10.1007/BF00205179