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    Based on whole-genome sequencing technology our aim is to explore the expression of the alpha-thalassemia trait during menopause period at the 6mA methylation site and evaluate the significance in clinical diagnosis. In this study, we collected peripheral blood from the women in the postmenopausal period in our hospital and used the method of (ChIP-seq) immunoprecipitation assay combined with next genome sequencing technology to select the 6mA site and differentially expressed genes and KEGG pathways and thereby investigate the clinical significance of the 6mA methylation site in women with thalassemia. A total of 38,879 methylation sites were selected, covering a wide range of CpG island and reference sequence genes. Methylation sites are located in different regions of the gene. PKA, PIK3C, CREB1, HSP90A, ITPR1, HSPA, and SOS were significantly enriched at the 6mA radicalization site and KEGG pathways, p < 0.01. The 6mA methylation site of alpha-thalassemia trait in menopause was less distributed than that of healthy controls and mainly distributed in introns. Estrogen signaling pathways may affect alpha-thalassemia in menopause through the 6mA methylation of differentially expressed genes.


    Hong Chu, Li-Tao Pan, Zhen-Wen Lin. Genome Sequencing Technology used to Explore the 6mA Methylation Level of Silent Alpha-Thalassemia in Postmenopausal Women. Clinical laboratory. 2020 Sep 01;66(9)

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    PMID: 32902216

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