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.
Highlights
Newborn screening is a mandated and routine health care program in many countries such as the United States, Japan, and most European countries [1]
To address the concern of whether the overall RNA gene expression can be sufficiently preserved in dried blood spots (DBS) to answer significant biological questions, we investigated the gene expression of males vs
Females acquired from DBS using microarray technology
Summary
Newborn screening is a mandated and routine health care program in many countries such as the United States, Japan, and most European countries [1]. Blood is collected from a heel prick 24–48 h after birth, placed on a Guthrie card and air-dried before submission to laboratories for testing. Quantitative analytical assays for newborn screening range from simple approaches such as colorimetric assays to advanced technologies such as liquid chromatography-tandem mass spectrometry [2]. After newborn screening, unused blood spots and/or portions of blood spots remain, and these are either discarded or archived, depending upon prevailing law and practice. Archived dried blood spots (DBS) are kept under varied storage conditions (e.g., frozen or unfrozen) and for varied durations of time [1]. Some DBS have been kept since the beginning of newborn screening programs
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