共济失调毛细血管扩张症的细胞遗传学研究

目的 探讨共济失调毛细血管扩张症的细胞遗传学异常特点，方法 收集来自３个家系本病患者６例，进行外周血淋巴细胞Ｇ显带分析，结果６例患者中４例有染色体异常，在该４例患者所分析的１２９个细胞中，４３个细胞有核型异常，累及１，７，１４，２，４，６，１１，１７，号染色体的分别有１８，１８，１５，３，２，１，１，１个细胞，４３个异常核型细胞中，缺失，易位，染色体断裂，双着丝粒，倒位各有１９，１６，４，１，１个

Cytogenetic study on ataxia telangiectasia

Objective To investigate the characteristics of the cytogenetic anomalies of ataxia telangiectasia.Methods The clinical data of 6 patients from 3 ataxia telangiectasia families were reported,and their peripheral blood lymphocyte chromosomes were studied by G banding analysis. Results Chromosome abnormalities were found in 43 cells among 129 analyzed lymphocytes from 4 patients,while 2 other patients without abnormal chromosomes.Chromosome 1,7,14,2,4,6, 11,17 abnormalities were found respectively in 18,18,15,3,2,1,1,1 cells.Among 43 cells with abnormal chromosomes,deletion,translocation,dicentrics,csb and inversion were demonstrated in 19,16,4,1 and 1 cells. Conclusions Chromosome 1 is the most unstable one in the disease like chromosome 7 and 14.Deletion and translocation are the most common abnormalities.