Abstract:
: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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Dudley CR,Giuffra LA,Tippett P,Kidd KK,Reeders STdoi
10.1007/BF00205179subject
Has Abstractpub_date
1990-11-01 00:00:00pages
79-83issue
1eissn
0340-6717issn
1432-1203journal_volume
86pub_type
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