A DNA POLYMORPHISM IN THE HUMAN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE
- 19 July 1986
- journal article
- research article
- Vol. 70 (2) , 77-79
Abstract
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.This publication has 8 references indexed in Scilit:
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