A DNA polymorphism in the human low-density lipoprotein receptor gene
Date
1986-07
Authors
Kotze, M. J.
Retief, A. E.
Brink, P. A.
Weich, H. F. H.
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group -- HMPG
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 11,70/6 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.
Description
Article
The original publication is available at http://www.samj.org.za
The original publication is available at http://www.samj.org.za
Keywords
Lipoproteins, Genetic polymorphisms
Citation
Kotze, M. J. et al. 1986. A DNA polymorphism in the human low-density lipoprotein receptor gene. South African medical journal, 19 July 1986: 77-79.