Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

B Saint-Jore; N Loux; C Junien; C Boileau

doi:10.1007/BF00217783

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

Hum Genet. 1993 Jun;91(5):511-2. doi: 10.1007/BF00217783.

Authors

B Saint-Jore¹, N Loux, C Junien, C Boileau

Affiliation

¹ INSERM U73, Château de Longchamp, Paris, France.

PMID: 8100212
DOI: 10.1007/BF00217783

Abstract

We identified by polymerase chain reaction/single-strand conformation polymorphism analysis two unreported polymorphisms in the low density lipoprotein receptor gene, located in exons 11 and 15. The exon 15 sequence variation can also be readily detected since it abolishes an MspI site.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

DNA Mutational Analysis / methods
DNA, Single-Stranded / analysis
Genetic Variation
Humans
Hyperlipoproteinemia Type II / genetics*
Nucleic Acid Conformation
Polymorphism, Genetic*
Polymorphism, Restriction Fragment Length
Receptors, LDL / genetics*
Restriction Mapping

Substances

DNA, Single-Stranded
Receptors, LDL