Identification of novel informative loci for DNA-based X-inactivation analysis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10294666" target="_blank" >RIV/00216208:11110/15:10294666 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/15:10294666

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.bcmd.2014.10.001" target="_blank" >http://dx.doi.org/10.1016/j.bcmd.2014.10.001</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.bcmd.2014.10.001" target="_blank" >10.1016/j.bcmd.2014.10.001</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Identification of novel informative loci for DNA-based X-inactivation analysis

Popis výsledku v původním jazyce

The HUMARA assay, the most common method for evaluation of X-inactivation skewing in blood cells, has been reported to be usable in only about 80% of females, emphasizing the need for alternative methods for testing of HUMARA-uninformative individuals. We conducted an in silico search for potentially polymorphic tri-to-hexanucleotide repeats in the proximity of CpG islands located in 5' regions of X-chromosome genes to design five candidate assays (numbered I, II, III, IV, and V) combining methylation-specific restriction digest with PCR amplification in a manner similar to the HUMARA assay. The results obtained by these assays in 100 healthy females were compared to X-inactivation skewing measured by the AR-MSP method which is based on methylation-specific PCR amplification of the first exon of the AR gene. On the basis of statistical evidence, three of the novel assays (II, IV, and V), which were informative in 18%, 61%, and 55% of females in the cohort, respectively, may be used as

Název v anglickém jazyce

Identification of novel informative loci for DNA-based X-inactivation analysis

Popis výsledku anglicky

The HUMARA assay, the most common method for evaluation of X-inactivation skewing in blood cells, has been reported to be usable in only about 80% of females, emphasizing the need for alternative methods for testing of HUMARA-uninformative individuals. We conducted an in silico search for potentially polymorphic tri-to-hexanucleotide repeats in the proximity of CpG islands located in 5' regions of X-chromosome genes to design five candidate assays (numbered I, II, III, IV, and V) combining methylation-specific restriction digest with PCR amplification in a manner similar to the HUMARA assay. The results obtained by these assays in 100 healthy females were compared to X-inactivation skewing measured by the AR-MSP method which is based on methylation-specific PCR amplification of the first exon of the AR gene. On the basis of statistical evidence, three of the novel assays (II, IV, and V), which were informative in 18%, 61%, and 55% of females in the cohort, respectively, may be used as

Druh

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

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

—

Projekt

<a href="/cs/project/NT14015" target="_blank" >NT14015: Rozvoj metod laboratorní diagnostiky dědičných lysosomálních neurodegenerativních poruch</a><br>

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Blood Cells, Molecules, and Diseases

ISSN

1079-9796

e-ISSN

—

Svazek periodika

54

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

7

Strana od-do

210-216

Kód UT WoS článku

000348250300014

EID výsledku v databázi Scopus

2-s2.0-84922580269