Publication details
Advance in molecular diagnosis of familial hypercholesterolemia in the Czech population: identification and characterization of large rearrangements in LDLR gene
| Authors | |
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| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | Familial hyprecholesterolémia; LDLR gene; MLPA |
| Description | Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the gene encoding the low density lipoprotein receptor (LDLR). Mutations in the LDLR gene were diagnosed using exon by exon screening methods based on individual exon amplification, DHPLC analysis and sequencing. Recently, a novel method for genomic quantification, Multiplex Ligation-dependent Probe Amplification (MLPA), has been developed. In order to explore the possibility that whole exon deletions or duplications could be the causative mutation on some yet uncharacterized mutant LDLR alleles, we used MLPA technique in this study.Six different large deletions and three duplications were found, 3 of which (EX9_15del-14kb, EX9_14del-9.5kb and EX2_6dup-8.5kb) were prevalent in FH individuals from the Czech population. |
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