【摘要】 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。更多还原

【Abstract】 Objective:To further explore the nuclear gene modifier effects to mitochondrial DNA mutations,the immortal lymphoblastoid cell lines were established in a large deafness pedigree.Methods:The immortal lymphoblastoid cell lines were established by EBV transformation of B cells and addition of cyclosporine A In this present study 32,immortal cell lines of the large deafness pedigree were established,including 14 the deafness patients,18 the unaffected relatives of the pedigree,15 male and 17 female.Results:The immortal lymphoblastoid cell lines have been proved to be successful in above 90% of bolld samples and in almost 100% for rejuvenate cells.Chromosome preparation and G-banded karyotype form lymphoblastoid cells have no obvious change.Conclusion:The established immortal lymphoblastoid cell lines can be used as available material in cytogenetics and molecular biology for further study of hereditary hearing loss.更多还原