Identification of novel informative loci for DNA-based X-inactivation analysis
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00064165:_____/15:10294666
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Identification of novel informative loci for DNA-based X-inactivation analysis
Original language description
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
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT14015" target="_blank" >NT14015: Progress in methods of laboratory diagnostics of inherited lysosomal neurodegenerative disorders</a><br>
Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Blood Cells, Molecules, and Diseases
ISSN
1079-9796
e-ISSN
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Volume of the periodical
54
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
210-216
UT code for WoS article
000348250300014
EID of the result in the Scopus database
2-s2.0-84922580269