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, /PRNewswire/ -- In a study published in Nature today "Sequence diversity lost in early pregnancy," scientists from deCODE genetics, a subsidiary of Amgen, estimate that around one in 136 pregnancies are lost due to new mutations in the fetus. In other words, millions of pregnancies worldwide are lost because of mutations every year.
Hakon Jonsson and Gudny Anna Arnadottir scientists at deCODE genetics and authors on the paper in Nature
The human genome varies between individuals, but there are some locations in the genome where there seems to be little or no sequence variation between individuals. This raises the question whether the sequences at these locations are essential for human development? It is known that mutations in essential genomic sequences are major contributors to neurodevelopmental disorders, the question remains, do they also contribute to pregnancy loss?
As part of a Nordic collaboration, scientists from deCODE genetics sought to answer these questions by sequencing 467 samples from pregnancy losses from a prospective study initiated by Henriette Svarre Nielsen and Eva R. Hoffmann.
Interestingly, by comparing the genomes of the fetuses from pregnancy losses to their parents the scientists found that the fetuses harbored a similar number of new mutations as adults.
"Despite the similar numbers, we discovered that the main difference between the lost fetuses and adults was that the mutations in the fetuses occurred in essential genomic sequences," says H
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