Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands

Human Genetics
J Traeger-SynodinosN Matsaniotis

Abstract

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 appr...Continue Reading

Citations

Nov 8, 2012·Annals of Human Genetics·Ivan PećinSteve E Humphries
Nov 4, 2004·Human Mutation·George V Z DedoussisJanine Genschel
Jun 18, 2004·European Journal of Clinical Investigation·G V Z DedoussisC Stefanadis
Jul 11, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Eleftheria Laios, Euridiki Drogari
Mar 29, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Waqas AhmedSteve E Humphries

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