A DNA polymorphism in the human low-density lipoprotein receptor gene

Kotze, M. J. ; Retief, A. E. ; Brink, P. A. ; Weich, H. F. H. (1986-07)


The original publication is available at http://www.samj.org.za


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 11,70/6 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 nypercholesterolaemia in South Africa is discussed.

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