UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

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

Traeger-Synodinos, J; Mavroidis, N; Kanavakis, E; Drogari, E; Humphries, SE; Day, IN; Kattamis, C; (1998) Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands. Hum Genet , 102 (3) pp. 343-347.

Full text not available from this repository.

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 appropriate for the early identification of FH heterozygotes in Greece and are useful for the primary prevention of coronary artery disease.

Type: Article
Title: Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.
Location: Germany
Keywords: Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 19, DNA Mutational Analysis, Gene Frequency, Greece, Haplotypes, Heterozygote, Humans, Hyperlipoproteinemia Type II, Infant, Linkage Disequilibrium, Microsatellite Repeats, Mutation, Polymerase Chain Reaction, Receptors, LDL
URI: http://discovery.ucl.ac.uk/id/eprint/97272
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item