Characterization of polymorphisms at the 11 beta-hydroxylase (CYP11B1) locus

Ann Hum Genet. 1998 Mar;62(Pt 2):181-3. doi: 10.1046/j.1469-1809.1998.6220181.x.

Abstract

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.

MeSH terms

  • Alleles
  • DNA Restriction Enzymes
  • Exons
  • Gene Frequency
  • Humans
  • Introns
  • Linkage Disequilibrium
  • Polymorphism, Genetic*
  • Steroid 11-beta-Hydroxylase / genetics*

Substances

  • Steroid 11-beta-Hydroxylase
  • DNA Restriction Enzymes