(Health and Medical Publishing Group -- HMPG, 1986-07) Kotze, M. J.; Retief, A. E.; Brink, P. A.; Weich, H. F. H.
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.