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Prenatal diagnosis of familial hypercholesterolemia caused by the “Lebanese” mutation at the low density lipoprotein receptor locus

✍ Scribed by Ayeleth Reshef; Vardiella Meiner; Eldad J. Dann; Menachem Granat; Eran Leitersdorf

Publisher
Springer
Year
1992
Tongue
English
Weight
369 KB
Volume
89
Category
Article
ISSN
0340-6717

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✦ Synopsis

Here, we report the prenatal diagnosis of familial hypercholesterolemia in a Christian-Arab family that carries the "Lebanese" mutation, a single base substitution that creates a HinfI restriction site, at the low density lipoprotein (LDL) receptor locus. Polymerase chain reaction amplification and restriction analysis were performed on genomic DNA extracted from a chorionic villus sample. In conjunction with karyotype analysis, the fetus was identified as a heterozygous female. Analysis of LDL receptor restriction fragment length polymorphisms confirmed the presence of a male parent marker and revealed that the fetus inherited the mutant gene from its mother. This technique offers a simple and rapid diagnostic tool that can be carried out at an early stage of gestation. It is recommended for families and population groups with molecularly defined LDL receptor mutations.

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