Gene Mutation Targeting Sequencing Of Patients With Aplastic Anemiadisorder

Background: The application of the next generation sequencing(NGS)has enhanced our understanding of the genetic appearance of acquired Aplastic anemia disorders(AA).Past research has been to address potential immune disorders in the pathogenesis of disease.Recent insights into molecular and biological mechanisms have led to a shift in the AA paradigm,from the simple concept of autoimmune disease to the development of multiple pathophyologic changes that are characterized by abnormal cytogenetics,recurrent somatic mutations,telomere wear and immune dysregulation.There is a pathophysiological link between the cloned hematopoietic blood cells and the later development of these cloned diseases.In addition,some AA related somatic genetic changes may have clinical implications for the treatment response,progression and survival of immunosuppressive therapy.Objective: To analyze the genetic mutation and clinical characteristics of myeloid malignancies in patients with recurrent disorder anemia(apaa).Methods: 22 common myeloid tumor gene mutations were detected for 129 patients with chronic anemia,and the correlation between clinical features,immunosuppression and disease transformation was analyzed.Results: 88 cases were detected with mutation,mutation rate 68.21%,and 20 mutation genes,and the total number of mutations in the first sequence was 124 times.The highest number of cases in the 20-29 age group was 83.87%,significantly higher than the mutation rate(63.27%)in all other age groups(p = 0.032).The top 4genes were TET2(79 / 88,89.77 %),ASXL1(26 / 88,29.55 %),DNMT3A(2/88,227 %),RUNX1(2/88,227 %).A 66.02%(45/68)mutation rate for severe regeneration disorder,70.69%(41/58)of non-heavy regeneration disorder,(p =0.588),and significantly more mutations in the p.p.29 R site than in the reersion group.Conclusion: The incidence of aa-gene mutation is high,and is closely related to age,prognosis and disease progression.