A DNA polymorphism in the human low-density lipoprotein receptor gene.
A new restriction fragment length polymorphism (RFLP) in the low-density lipoprotein receptor gene is described using the Stu I restriction endonuclease and a cDNA probe. The frequency of the two RFLP alleles was determined in 60 unrelated white subjects and 11.7% of them were found to be heterozygous for the polymorphism. Mendelian segregation of the RFLP was found in 3 informative families. The possible use of the RFLP in the diagnosis of familial hypercholesterolaemia in South Africa is discussed.
D005821:Genetic Techniques; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D011973:Receptors, LDL / Q000235:genetics*; D011995:Recombination, Genetic
D011973:Receptors, LDL