Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
| Autoři | |
|---|---|
| Rok publikování | 2010 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | BMC Medical Genetics |
| Fakulta / Pracoviště MU | |
| Citace | |
| Obor | Genetika a molekulární biologie |
| Klíčová slova | LIPOPROTEIN RECEPTOR GENE; RNA POLYMERASE-III; ALU REPEATS; ITALIAN PATIENTS; SACCHAROMYCES-CEREVISIAE; PARTIAL DELETIONS; MOLECULAR-BASIS; RECOMBINATION; MICROHOMOLOGY; MUTATIONS |
| Popis | 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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