Whole-genome sequencing analysis of the victim exposed to a super high dose of iridium-192 during the Nanjing radiological accident in 2014

Daojiang YU; Wenling TU; Zhiqiang JIANG; Min WANG; Yuhong SHI; Yulong LIU; Youyou WANG; Shuyu ZHANG

Objective:

To investigate radiation-induced somatic mutations and variations and provide theoretical basis for clarifying radiation-induced genetic changes and long-term effects by whole-genome sequencing analysis of the genetic variations of the victim of the " 5.7" 192Ir radiation accident in Nanjing.

Methods:

Normal back skin tissue, irradiated bone and soft tissues, and peripheral blood were collected from the victim 2 047 days post-irradiation. DNA of these samples was extracted and sequenced with high-throughput genomics and analyzed by bioinformatics method. The genetic variations of between irradiated and normal tissues were compared.

Results:

Compared with normal back skin tissue, there are large amounts of genetic variations in the irradiated bone and soft tissues and peripheral blood, including base substitution (transition, transversion), small insertion, small deletion, copy number variation (gain, loss) and structure variation (large deletion, large duplication, inversion, intra-chromosomal translocation, inter-chromosomal translocation). There were 10 666 genetic variations in the irradiated bone and soft tissues and 11 233 genetic variations in peripheral blood, where thousands of genes were involved in. These variations occurred in the exons, introns, UTR′3, UTR′5, splicing sites, within 5 kb upstream of transcription initiation site, within 5 kb downstream of transcription termination site, ncRNA and intergenic region. All chromosomes had genetic variations.

Conclusions:

There were a large number of genetic variations in the irradiated tissues and blood of the victim at 2 047 days after irradiation, which may affect the body function and cause the long-term effects.

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