Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

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Authors

GOLDMANN Radan TICHÝ Lukáš FREIBERGER Tomáš ZAPLETALOVÁ Petra LETOCHA Ondřej SOŠKA Vladimír FAJKUS Jiří FAJKUSOVÁ Lenka

Year of publication 2010
Type Article in Periodical
Magazine / Source BMC Medical Genetics
MU Faculty or unit

Faculty of Science

Citation
Field Genetics and molecular biology
Keywords LIPOPROTEIN RECEPTOR GENE; RNA POLYMERASE-III; ALU REPEATS; ITALIAN PATIENTS; SACCHAROMYCES-CEREVISIAE; PARTIAL DELETIONS; MOLECULAR-BASIS; RECOMBINATION; MICROHOMOLOGY; MUTATIONS
Description Mutations in the LDLR gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene. In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. Eight different types of rearrangements were detected, from them 6 types were novel, not described so far. Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR) between Alu elements is involved in 6 events, while a non-homologous end joining (NHEJ) is implicated in 2 rearrangements.
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