Project description:Changes in DNA methylation, is one mechanism by which genes are regulated. Aberrant methylation can lead to gene dysregulation, such as inactivation of tumour suppressor genes, and is observed in all cancers. Gene dysregulation via aberrant DNA methylation may be an important contributor to disease outcomes. Importantly, these marks are malleable in response to environmental exposures and contribute to phenotypic plasticity in the context of a fixed genotype. Many studies suggest maternal exposures during pregnancy can have a profound impact on the epigenome and so determine gene expression patterns and health throughout the life-course. Studies of altered epigenetic marking are of profound importance for mechanistic understanding of the role of exposures on health but especially for studies of the developmental origins of health. Historically collected neonatal blood spot samples represent a rich resource in which methylation at birth could be measured decades after being sampled and methylation patterns associated with recorded disease outcomes. Here we aimed to test the feasibility that methylation could be assessed in historically collected blood spot samples and assess if the time since sample collection affected methylation patterns. The Newcastle Haematology biobank houses blood spots collected routinely from neonates 5-8 days after birth between the years 1984-1994 in the local region. Samples were selected from across the collection period and cross referenced with the Northern region Children's malignant disease registry in an aim to exclude samples from children who had gone on to have a malignancy during childhood. Genome-wide DNA methylation profiling of neonatal blood spots was assessed using the Illumina Infinium® MethylationEPIC BeadChip platform. Extraction yield DNA of sufficient quality and quantity for successful analysis of DNA methylation. Time since collection was not found to significantly influence methylation in this sample. Data from this study could be utilised in future case-controls studies to investigate the relationship between methylation patterns and birth and disease outcomes.
Project description:Genome wide DNA methylation profiling of human samples from dried neonatal blood spots taken at birth from a cohort of pregnant people and their infants in Michigan. The Illumina MethylationEPIC Beadchip array was used to obtain DNA methylation profiles across over 850,000 CpGs in dried neonatal blood spot samples. Samples were collected from 166 infants at birth.
Project description:Newborn screening blood spots were obtained for neonates born to women enrolled in the Emory University African American Microbiome in Pregnacy Cohort
Project description:The Guthrie 903 card archived dried blood spots (DBS) are a unique but terminal resource amenable for individual and population wide genomic profiling. The limited amounts of DBS-derived genomic DNA (gDNA) can be whole-genome amplified (WGA) producing sufficient gDNA for genomic applications, albeit with variable success, and optimizing the isolation of high-quality DNA from these finite, low-yield specimens is essential. Visual automated fluorescence electrophoresis (VAFE) is a novel QC technology affording precise quality, quantity and molecular weight of double-stranded DNA from a single microliter of sample. The VAFE QC data were correlated with subsequent sample performance in PCR, sequencing, and high-density comparative genome hybridization array. The Swedish Repository of DBS samples collected on Guthrie 903 cards for neonatal screening of inborn diseases provided deidentified 3mm blood spot punches. There were total of eight (8) samples representing two (2) decades; 1970s: 1975, 1976, 1977, 1978; 1980s: 1980, 1982, 1984, 1986. gDNA was extracted and whole genome amplified prior to aCGH experiments using control female reference genomic DNA. The objective was to show that large rearrangements (e.g. loss of chrX in male samples) can be detected in WGA gDNA from blood spots >30 years old.