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目的试图建立外周血淋巴细胞、永生化细胞系以保存孤独症患者家系特有的基因组资源,为进一步探讨孤独症的发生机理提供材料。方法在知情同意的情况下收集66个原发性孤独症核心家系成员的外周血样品,采用EB病毒转化技术,将外周血B淋巴细胞转化成永生化淋巴母细胞系;并用遗传学方法检测其建系前后的遗传稳定性。结果建系成功孤独症病例60例,父母成功132例,所有建成的细胞系冻存后复苏成功率100%,染色体核型分析表明建系前后遗传是稳定的。结论本研究建立的孤独症患者永生细胞系,可为进一步研究孤独症的分子水平发病机理提供随时可取的实验材料。
OBJECTIVE: To establish a peripheral blood lymphocyte and immortalized cell line to conserve the pedigree-specific genomic resources of autism patients and to provide material for further exploring the pathogenesis of autism. Methods Peripheral blood samples of 66 primary autism familial members were collected with informed consent. Epstein-Barr virus transformation was used to transform peripheral blood B lymphocytes into immortalized lymphoblastoid cell lines. The genetic test Genetic stability before and after establishment. Results: 60 cases of autism were successfully established and 132 were successful parents. The successful rate of all the constructed cell lines was 100% after cryopreservation. Chromosomal karyotype analysis showed that the genetic stability was stable before and after the establishment of the system. Conclusion The immortalized cell line of autism established in this study may provide ready-for-use experimental materials for further research on molecular pathogenesis of autism.