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科凯恩综合征中的基因互补群

Genetic complementation groups in cockayne syndrome.

作者信息

Tanaka K, Kawai K, Kumahara Y, Ikenaga M, Okada Y

出版信息

Somatic Cell Genet. 1981 Jul;7(4):445-55. doi: 10.1007/BF01542989.

Abstract

Skin fibroblasts from patients with cockayne syndrome (CS cell) exhibited marked ultraviolet (UV) sensitivity as measured by colony-forming ability. Further, recovery of semiconservative DNA synthesis following UV irradiation was absent in CS cells, as it is in xeroderma pigmentosum cells. We found that the rate of semiconservative DNA synthesis measured at 12 h after 12 J/m2 of UV irradiation had recovered to nearly normal levels in binuclear cells obtained by the fusion of CS strains CS3BE (GM 1856) and CS7SE (GM1428) and of CS3BE (GM1856) and CS1BE (GM1629), but not of C57SE (GM1428) and CS1BE (GM1629). These results indicate that there are at least two genetic complementation groups in CS.

摘要

通过集落形成能力测定,科凯恩综合征患者的皮肤成纤维细胞(CS细胞)表现出显著的紫外线(UV)敏感性。此外,与着色性干皮病细胞一样,CS细胞在紫外线照射后不存在半保留DNA合成的恢复情况。我们发现,在12 J/m²紫外线照射12小时后测定的半保留DNA合成速率,在通过CS3BE(GM 1856)和CS7SE(GM1428)以及CS3BE(GM1856)和CS1BE(GM1629)融合获得的双核细胞中已恢复到接近正常水平,但在C57SE(GM1428)和CS1BE(GM1629)融合的双核细胞中未恢复。这些结果表明,CS中至少存在两个遗传互补组。

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