Screening And Mechanism Of Erythroid Lineage Differentiation Gene In Thalassemia

Thalassemia is one of the most common monogenic genetic diseases in the world.At present,there is no universal method to cure thalassemia.Prenatal diagnosis plays an important role in the prevention of thalassemia.Due to the limitation of prenatal diagnosis technology,the rare mutation type of thalassemia can not be detected and the birth of thalassemia children can not be completely avoided.Exon sequencing technology can make up for this shortcoming,so we use exon sequencing technology to detect amniotic fluid samples of Mediterranean anemia gene carriers,which can not only verify the clinical prenatal diagnosis results,but also to find new mutation sites.We screened 1344 common mutation sites by exon sequencing.Through GO enrichment analysis,26 term were screened,including the whole membrane components,transmembrane signal receptor activity,extracellular matrix structural components,calcium binding,etc.;through KEGG enrichment analysis,13 signal pathways were screened,including glycolysis / gluconeogenesis,ECM receptor interaction,complement and coagulation cascade,etc.These genes and signaling pathways may be closely related to the pathogenesis of thalassemia,and the results need to be further verified.On the other hand,hemoglobin gene defects affect the development of erythrocytes.The development of red blood cells originated from hematopoietic stem cells.The study of the mechanism of hematopoietic stem cells is a potential breakthrough to cure a series of blood diseases such as thalassemia.CD34 positive cells were isolated and purified from cord blood samples by magnetic bead sorting and flow sorting.In vitro,hematopoietic stem cells were successfully induced and differentiated by a variety of cytokines,which laid a foundation for in vitro culture of hematopoietic stem cells to simulate the hematopoietic process in vivo.