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先天性角化不良淋巴细胞中的姐妹染色单体交换

Sister chromatid exchange in dyskeratosis congenita lymphocytes.

作者信息

Burgdorf W, Kurvink K, Cervenka J

出版信息

J Med Genet. 1977 Aug;14(4):256-7. doi: 10.1136/jmg.14.4.256.

Abstract

Sister chromatid exchange (SCE) frequency in chromosomes from lymphocytes of a patient with dyskeratosis congenita was 12-2 per mitosis. Our 33 normal controls had a mean of 5-4 SCE per mitosis and 5 patients with Fanconi's anaemia averaged 7-6 SCE per mitosis. The rate of chromosome breakage was only 0-5% in the dyskeratosis congenita patient and 0 to 2-5% in controls, while the Fanconi's anaemia patients showed higher values.

摘要

先天性角化不良患者淋巴细胞染色体的姐妹染色单体交换(SCE)频率为每有丝分裂12 - 2次。我们的33名正常对照者平均每有丝分裂有5 - 4次SCE,5名范科尼贫血患者平均每有丝分裂有7 - 6次SCE。先天性角化不良患者的染色体断裂率仅为0 - 5%,对照者为0至2 - 5%,而范科尼贫血患者的数值更高。

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