Characterization of polymorphisms at the 11 beta-hydroxylase (CYP11B1) locus.
Four sequence variants in the 11 beta-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.
Department of Molecular Pathology, UCL Medical School, London.
C A
CA
Skinner
N
N
Yousaf
J W
JW
Honour
G
G
Rumsby
D000483:Alleles; D004262:DNA Restriction Enzymes; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*
D013252:Steroid 11-beta-Hydroxylase; D004262:DNA Restriction Enzymes