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Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)

Screening newborns for treatable serious conditions is mandated in all US states and many other countries. After screening, Guthrie cards with residual blood (whole spots or portions of spots) are typically stored at ambient temperature in many facilities. The potential of archived dried blood spots...

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Autores principales: Resau, James H., Ho, Nhan T., Dykema, Karl, Faber, Matthew S., Busik, Julia V., Nickolov, Radoslav Z., Furge, Kyle A., Paneth, Nigel, Jewell, Scott, Khoo, Sok Kean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2012
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431816/
https://www.ncbi.nlm.nih.gov/pubmed/22949818
http://dx.doi.org/10.3390/ijms13089599
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author Resau, James H.
Ho, Nhan T.
Dykema, Karl
Faber, Matthew S.
Busik, Julia V.
Nickolov, Radoslav Z.
Furge, Kyle A.
Paneth, Nigel
Jewell, Scott
Khoo, Sok Kean
author_facet Resau, James H.
Ho, Nhan T.
Dykema, Karl
Faber, Matthew S.
Busik, Julia V.
Nickolov, Radoslav Z.
Furge, Kyle A.
Paneth, Nigel
Jewell, Scott
Khoo, Sok Kean
author_sort Resau, James H.
collection PubMed
description Screening newborns for treatable serious conditions is mandated in all US states and many other countries. After screening, Guthrie cards with residual blood (whole spots or portions of spots) are typically stored at ambient temperature in many facilities. The potential of archived dried blood spots (DBS) for at-birth molecular studies in epidemiological and clinical research is substantial. However, it is also challenging as analytes from DBS may be degraded due to preparation and storage conditions. We previously reported an improved assay for obtaining global RNA gene expression from blood spots. Here, we evaluated sex-specific gene expression and its preservation in DBS using oligonucleotide microarray technology. We found X inactivation-specific transcript (XIST), lysine-specific demethylase 5D (KDM5D) (also known as selected cDNA on Y, homolog of mouse (SMCY)), uncharacterized LOC729444 (LOC729444), and testis-specific transcript, Y-linked 21 (TTTY21) to be differentially-expressed by sex of the newborn. Our finding that trait-specific RNA gene expression is preserved in unfrozen DBS, demonstrates the technical feasibility of performing molecular genetic profiling using such samples. With millions of DBS potentially available for research, we see new opportunities in using newborn molecular gene expression to better understand molecular pathogenesis of perinatal diseases.
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spelling pubmed-34318162012-09-04 Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS) Resau, James H. Ho, Nhan T. Dykema, Karl Faber, Matthew S. Busik, Julia V. Nickolov, Radoslav Z. Furge, Kyle A. Paneth, Nigel Jewell, Scott Khoo, Sok Kean Int J Mol Sci Article Screening newborns for treatable serious conditions is mandated in all US states and many other countries. After screening, Guthrie cards with residual blood (whole spots or portions of spots) are typically stored at ambient temperature in many facilities. The potential of archived dried blood spots (DBS) for at-birth molecular studies in epidemiological and clinical research is substantial. However, it is also challenging as analytes from DBS may be degraded due to preparation and storage conditions. We previously reported an improved assay for obtaining global RNA gene expression from blood spots. Here, we evaluated sex-specific gene expression and its preservation in DBS using oligonucleotide microarray technology. We found X inactivation-specific transcript (XIST), lysine-specific demethylase 5D (KDM5D) (also known as selected cDNA on Y, homolog of mouse (SMCY)), uncharacterized LOC729444 (LOC729444), and testis-specific transcript, Y-linked 21 (TTTY21) to be differentially-expressed by sex of the newborn. Our finding that trait-specific RNA gene expression is preserved in unfrozen DBS, demonstrates the technical feasibility of performing molecular genetic profiling using such samples. With millions of DBS potentially available for research, we see new opportunities in using newborn molecular gene expression to better understand molecular pathogenesis of perinatal diseases. Molecular Diversity Preservation International (MDPI) 2012-08-02 /pmc/articles/PMC3431816/ /pubmed/22949818 http://dx.doi.org/10.3390/ijms13089599 Text en © 2012 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0 This article is an open-access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Article
Resau, James H.
Ho, Nhan T.
Dykema, Karl
Faber, Matthew S.
Busik, Julia V.
Nickolov, Radoslav Z.
Furge, Kyle A.
Paneth, Nigel
Jewell, Scott
Khoo, Sok Kean
Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)
title Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)
title_full Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)
title_fullStr Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)
title_full_unstemmed Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)
title_short Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)
title_sort evaluation of sex-specific gene expression in archived dried blood spots (dbs)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431816/
https://www.ncbi.nlm.nih.gov/pubmed/22949818
http://dx.doi.org/10.3390/ijms13089599
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