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目的建立我国遗传性耳聋大家系患者永久淋巴母细胞株以研究核基因结构对线粒体DNA突变的修饰效应。方法采用EB病毒转化外周血淋巴细胞同时加环孢霉素A法,建立该大家系永生细胞系,其中患者14例,配偶及正常同胞18例;男性17例,女性15例。结果建株成功率达到90%以上,对已建立的永生细胞株经复苏和冻存的成功率为100%。细胞染色体制备及G显带核型分析正常。结论通过建立永生细胞系保存这一具有重要研究价值的家系遗传资源,为在细胞和分子水平上进一步开展遗传性耳聋的基础研究提供了宝贵的资料。
Objective To establish a permanent lymphoblastoid cell line in patients with genetic deafness in our country to study the effect of nuclear gene structure modification on mitochondrial DNA mutations. Methods The immortalized cell line was established by transforming Epstein - Barr virus (PBV) peripheral blood lymphocytes and cyclosporin A method. Among them, 14 were patients, 18 were spouses and normal siblings, 17 were males and 15 were females. Results The success rate of establishing plants was above 90%. The successful rate of established immortalized cell lines after resuscitation and cryopreservation was 100%. Cell chromosome preparation and G-band karyotype analysis of normal. Conclusion The establishment of an immortalized cell line to preserve this important pedigree genetic resource has provided valuable information for the further study of hereditary deafness at the cellular and molecular level.