Abstract | BACKGROUND: Immune thrombocytopenic ( ITP) is an autoimmune bleeding disease with genetic susceptibility. Twenty newly diagnosed active primary ITP patients who had not been treated with glucocorticosteroids, immune globulin or immunosuppressants prior to sampling were enrolled in this study. Bone marrow blood mononuclear cells were used for whole exome sequencing to further elucidation the variant genes of ITP. METHODS: High-molecular-weight genomic DNA was extracted from freshly frozen bone marrow blood mononuclear cells from 20 active ITP patients. Next, the samples were subjected to molecular genetic analysis by whole-exome sequencing, and the results were confirmed by Sanger sequencing. The signaling pathways and cellular processes associated with the mutated genes were identified with gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses. RESULTS: CONCLUSION: Our finding further demonstrates the functional connections between these variant genes and ITP. Although the substantial mechanism and the impact of genetic variation are required further investigation, the application of next generation sequencing in ITP in this paper is a valuable method to reveal the genetic susceptibility.
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Authors | Jing-Shu Ruan, Rui-Jie Sun, Jin-Ping Wang, Xiao-Hui Sui, Hui-Ting Qu, Dai Yuan, Ning-Ning Shan |
Journal | Medicine
(Medicine (Baltimore))
Vol. 102
Issue 7
Pg. e32947
(Feb 17 2023)
ISSN: 1536-5964 [Electronic] United States |
PMID | 36800582
(Publication Type: Journal Article)
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Copyright | Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. |
Chemical References |
- Proto-Oncogene Proteins c-akt
- Phosphatidylinositol 3-Kinases
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Topics |
- Humans
- Purpura, Thrombocytopenic, Idiopathic
- Proto-Oncogene Proteins c-akt
(genetics)
- Phosphatidylinositol 3-Kinases
(genetics)
- Genetic Predisposition to Disease
- Thrombocytopenia
- Signal Transduction
(genetics)
- Mutation
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