Int. J. Mol. Sci. 2012, 13(8), 9599-9608; doi:10.3390/ijms13089599
Article

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

1,†email, 2email, 3email, 4email, 4email, 5email, 3email, 2,6email, 1email and 7,†,* email
Received: 28 April 2012; in revised form: 25 July 2012 / Accepted: 30 July 2012 / Published: 2 August 2012
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract: 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.
Keywords: archived dried blood spots (DBS); sex-specific; gene expression; molecular genetic profiling; microarray
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MDPI and ACS Style

Resau, J.H.; Ho, N.T.; Dykema, K.; Faber, M.S.; Busik, J.V.; Nickolov, R.Z.; Furge, K.A.; Paneth, N.; Jewell, S.; Khoo, S.K. Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS). Int. J. Mol. Sci. 2012, 13, 9599-9608.

AMA Style

Resau JH, Ho NT, Dykema K, Faber MS, Busik JV, Nickolov RZ, Furge KA, Paneth N, Jewell S, Khoo SK. Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS). International Journal of Molecular Sciences. 2012; 13(8):9599-9608.

Chicago/Turabian Style

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. 2012. "Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)." Int. J. Mol. Sci. 13, no. 8: 9599-9608.

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