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布卢姆综合征中姐妹染色单体交换与染色体畸变之间的关系。

The relationship between sister chromatid exchanges and chromosome aberrations in Bloom's syndrome.

作者信息

Shiraishi Y, Sandberg A A

出版信息

Cytogenet Cell Genet. 1977;18(1):13-23. doi: 10.1159/000130744.

Abstract

The distribution of the break points of sister chromatid exchanges (SCE) was compared with that of chromosome aberrations in Bloom's syndrome by using differential sister chromatid staining and banding techniques. A comparison was made of the distribution in chromosomes 1, 2, and 3, since the exact identification of other chromosomes is difficult with the differential sister-chromatid staining technique. It was shown that SCE and chromosome breaks do not necessarily correlate as to location. Some chromosome break points, e.g., 1q21, 1p36, 2q31, 3q12, and 3p13, were common with those of SCE, whereas others (at 1p13, 2p11, 2q11, and 3q11) showed little or no SCE. SCE breaks were not observed in the centromeric regions. In addition, the SCE frequency was examined in Bloom's syndrome cells with and without chromosome aberrations, and no significant differences of SCE frequency were observed between cells with chromatid- or chromosome-type of aberrations and those with normal complements. Banding analyses indicated a nonrandom distribution of chromosome breaks in the lymphocytes and marrow cells of the Bloom's syndrome patient.

摘要

通过使用姐妹染色单体差异染色和显带技术,比较了布卢姆综合征中姐妹染色单体交换(SCE)的断裂点分布与染色体畸变的分布。对1号、2号和3号染色体的分布进行了比较,因为使用姐妹染色单体差异染色技术很难准确识别其他染色体。结果表明,SCE和染色体断裂在位置上不一定相关。一些染色体断裂点,如1q21、1p36、2q31、3q12和3p13,与SCE的断裂点相同,而其他一些断裂点(1p13、2p11、2q11和3q11)几乎没有或没有SCE。在着丝粒区域未观察到SCE断裂。此外,检测了有和没有染色体畸变的布卢姆综合征细胞中的SCE频率,在有染色单体或染色体类型畸变的细胞与具有正常染色体组的细胞之间,未观察到SCE频率有显著差异。显带分析表明,布卢姆综合征患者的淋巴细胞和骨髓细胞中染色体断裂呈非随机分布。

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