Περίληψη:
This study reports the characterization of 60% of low density
lipoprotein receptor (LDLR) gene mutations in 150 unrelated Greek
familial hypercholesterolaemia (FH) heterozygous children by the
analysis of six LDLR gene mutations. The linkage disequilibrium of two
polymorphic microsatellites (D19S394 and D19S221) flanking the LDLR gene
on chromosome 19 to the four most common mutations strongly suggests
that each mutation is identical-by-descent in the probands included in
this study (this is also supported by the geographical distribution of
FH families with these mutations throughout Greece) and permits an
estimation of the number of generations from a common ancestor for each
mutation. The characterization of 60% of LDLR mutations in a
representative sample of Greek FH heterozygotes provides a basis for the
diagnosis of FH through DNA analysis in Greece, by using single-strand
conformation polymorphism analysis followed by allele-specific
oligonucleotide hybridization (exon 6 mutations) or restriction
endonuclease analysis (C152R, V408M). A rapid diagnostic assay positive
for the mutation has been developed for the most common mutation, G528D.
The application of simple DNA diagnostic assays for LDLR mutation
analysis are appropriate for the early identification of FH
heterozygotes in Greece and are useful for the primary prevention of
coronary artery disease.
Συγγραφείς:
Traeger-Synodinos, J
Mavroidis, N
Kanavakis, E
Drogari, E
and Humphries, SE
Day, INM
Kattamis, C
Matsaniotis, N
