Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene

Hum Genet. 1992 May;89(3):362. doi: 10.1007/BF00220563.

Abstract

DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Arginine / genetics
  • Base Sequence
  • Exons / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Oligodeoxyribonucleotides / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*
  • Receptors, LDL / genetics*

Substances

  • Oligodeoxyribonucleotides
  • Receptors, LDL
  • Arginine