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Characterization of polymorphisms at the 11β‐hydroxylase ( CYP11B1 ) locus
Author(s) -
SKINNER C. A.,
YOUSAF N.,
HONOUR J. W.,
RUMSBY G.
Publication year - 1998
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.1998.6220181.x
Subject(s) - aldosterone synthase , steroid 11 beta hydroxylase , intron , genetics , exon , locus (genetics) , biology , gene , linkage disequilibrium , microbiology and biotechnology , allele , haplotype , endocrinology , steroid , renin–angiotensin system , hormone , blood pressure
Four sequence variants in the 11β‐hydroxylase ( CYP11B1 ) gene are reported. One of the sequence changes occurs in exon 1 and is in linkage disequilibrium with a second variant in intron 3. The other two changes occur at adjacent nucleotides in intron 1. The finding of easily demonstrable, intragenic variants will be beneficial to the study of the role of the CYP11B1 and the adjacent aldosterone synthase ( CYP11B2 ) gene in hypertensive disease.