Komatsu K, Kodama S, Okumura Y, Koi M, Oshimura M
Department of Radiation Biophysics, Nagasaki University School of Medicine, Japan.
Mutat Res. 1990 Mar;235(2):59-63. doi: 10.1016/0921-8777(90)90058-d.
In order to identify the human chromosome which carries a mutated gene in cells from a patient with the hereditary disorder ataxia telangiectasia belonging to complementation group D (AT-D), we performed chromosome transfer experiments via microcell fusion. A single, pSV2neo-tagged chromosome, either 11 or 12, derived from normal human fibroblasts was introduced into AT-D cells by microcell fusion, and clones which were resistant to the antibiotic G418 were isolated. All 3 hybrid clones containing an additional copy number of chromosome 11 showed a restoration of the resistance of wild-type cells to killing by X-irradiation, whereas all 3 hybrid clones containing an additional copy number of chromosome 12 remained hyper-radiosensitive, like the parental AT cells. The results indicate that a defective gene of AT-D cells is also located on chromosome 11, since a genetic linkage analysis has previously suggested that a defective gene of its complementation group A is located on this chromosome.
为了鉴定在遗传性共济失调毛细血管扩张症D互补组（AT-D）患者细胞中携带突变基因的人类染色体，我们通过微细胞融合进行了染色体转移实验。通过微细胞融合将源自正常人成纤维细胞的一条带有pSV2neo标签的染色体（11号或12号染色体）导入AT-D细胞，并分离出对抗生素G418有抗性的克隆。所有3个含有额外拷贝数11号染色体的杂交克隆均显示出野生型细胞对X射线杀伤的抗性得以恢复，而所有3个含有额外拷贝数12号染色体的杂交克隆仍像亲代AT细胞一样对辐射高度敏感。结果表明，AT-D细胞的缺陷基因也位于11号染色体上，因为之前的遗传连锁分析表明其互补组A的缺陷基因位于该染色体上。
