Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8254" target="_blank" >RIV/00064203:_____/12:8254 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/12:8254

Výsledek na webu

<a href="http://dx.doi.org/10.1002/ppul.22520" target="_blank" >http://dx.doi.org/10.1002/ppul.22520</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

Popis výsledku v původním jazyce

Introduction Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of these long genes. The objective of the study was to test the sensitivity of sequencing of selected 13 exons (as compared to costly sequencing of all 100 exons of the two genes), and to determine the prevalence of the DNAH5 or DNAI1 mutations in the Czech PCDdatabase. Methods The Czech national PCD database has identified 31 pediatric patients, diagnosed based on clinical findings and tests on the ciliated epithelium. Twenty-seven patients from 24 families agreed on genetic testing. In the first step, direct sequencing of selected 13 exons (9 of DNAH5 and 4 of DNAI1) was performed, and then we compared its effectiveness in detecting at least one mutation with results of sequencing all 100 exons of the two genes. Results The sequencing of al

Název v anglickém jazyce

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

Popis výsledku anglicky

Introduction Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of these long genes. The objective of the study was to test the sensitivity of sequencing of selected 13 exons (as compared to costly sequencing of all 100 exons of the two genes), and to determine the prevalence of the DNAH5 or DNAI1 mutations in the Czech PCDdatabase. Methods The Czech national PCD database has identified 31 pediatric patients, diagnosed based on clinical findings and tests on the ciliated epithelium. Twenty-seven patients from 24 families agreed on genetic testing. In the first step, direct sequencing of selected 13 exons (9 of DNAH5 and 4 of DNAI1) was performed, and then we compared its effectiveness in detecting at least one mutation with results of sequencing all 100 exons of the two genes. Results The sequencing of al

Druh

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

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

<a href="/cs/project/NT11469" target="_blank" >NT11469: Primární ciliární dyskineze: nové přístupy k diagnostice a epidemiologii</a><br>

Návaznosti

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

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Pediatric Pulmonology

ISSN

8755-6863

e-ISSN

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Svazek periodika

47

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

12

Strana od-do

864-875

Kód UT WoS článku

000307547600004

EID výsledku v databázi Scopus

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