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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F10%3A00046215" target="_blank" >RIV/00216224:14310/10:00046215 - isvavai.cz</a>

Alternative codes found

RIV/00159816:_____/10:#0000604

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language description

BACKGROUND: 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 accountfor approximately 10% of mutations in the LDLR gene. METHODS: DNA diagnostics of large genomic rearrangements was based on Multiple Ligation dependent Probe Amplification (MLPA). Subsequent analyses of deletion and duplication breakpoints were performedusing long range PCR, PCR, and DNA sequencing. RESULTS: 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. In all rearrangements, we characterized their exact extent and breakpoint sequences.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

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Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

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Volume of the periodical

11

Issue of the periodical within the volume

115

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

8

Pages from-to

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UT code for WoS article

000283193200001

EID of the result in the Scopus database

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