Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.
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.
Saint-Jore
B
B
INSERM U73, Château de Longchamp, Paris, France.
Loux
N
N
Junien
C
C
Boileau
C
C
D004252:DNA Mutational Analysis / Q000379:methods; D004277:DNA, Single-Stranded / Q000032:analysis; D014644:Genetic Variation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009690:Nucleic Acid Conformation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*; D015183:Restriction Mapping
D004277:DNA, Single-Stranded; D011973:Receptors, LDL