A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293014" target="_blank" >RIV/00064203:_____/14:10293014 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10293014

Výsledek na webu

<a href="http://dx.doi.org/10.1186/1755-8166-7-51" target="_blank" >http://dx.doi.org/10.1186/1755-8166-7-51</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/1755-8166-7-51" target="_blank" >10.1186/1755-8166-7-51</a>

Jazyk výsledku

angličtina

Název v původním jazyce

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Popis výsledku v původním jazyce

Background: Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. Many examples of inversion polymorphisms exist in human, affecting both heterochromatic regions and euchromatin. Results: We describe a novel, 15 Mb long paracentric inversion, inv(21)(q21.1q22.11), affecting more than a third of human 21q. Despite of its length, the inversion cannot be detected using karyotyping due to similar band patterns on the normal and inverted chromosomes, and is therefore likely to escape attention. Its identification was aided by the repeated observation of the same pair of 150 kb long duplications present in cis on chromosome 21 in three Czech familiessubjected to microarray analysis. The finding prompted us to hypothesise that this co-occurrence of two remote duplications could be associated with an inversion of the intervening segment, and this speculation turned out to be right. The

Název v anglickém jazyce

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Popis výsledku anglicky

Background: Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. Many examples of inversion polymorphisms exist in human, affecting both heterochromatic regions and euchromatin. Results: We describe a novel, 15 Mb long paracentric inversion, inv(21)(q21.1q22.11), affecting more than a third of human 21q. Despite of its length, the inversion cannot be detected using karyotyping due to similar band patterns on the normal and inverted chromosomes, and is therefore likely to escape attention. Its identification was aided by the repeated observation of the same pair of 150 kb long duplications present in cis on chromosome 21 in three Czech familiessubjected to microarray analysis. The finding prompted us to hypothesise that this co-occurrence of two remote duplications could be associated with an inversion of the intervening segment, and this speculation turned out to be right. The

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Molecular Cytogenetics

ISSN

1755-8166

e-ISSN

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Svazek periodika

7

Číslo periodika v rámci svazku

neuveden

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

8

Strana od-do

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Kód UT WoS článku

000341508700001

EID výsledku v databázi Scopus

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