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21三体嵌合体有丝分裂中的卫星联合及核仁组织区染色

Satellite associations and NOR staining in mitoses of trisomy 21 mosaicism.

作者信息

Zankl H, Nagl H

出版信息

Hum Genet. 1980;55(1):115-7. doi: 10.1007/BF00329136.

Abstract

The pattern of acrocentric chromosomes was studied in 190 normal and 190 trisomic cells from a patient with trisomy 21 mosaicism. No significant differences were observed in the total numbers of associations, the numbers of mitoses with one, two, or three associations, or the numbers of associations in which more than two acrocentric chromosomes were involved. Nor was the total number of associating acrocentric chromosomes significantly different in the two cell types. The no. 21 chromosomes, however, associated significantly more often in the trisomic cells, while all other acrocentrics showed a somewhat decreased association tendency. The NORs of 20 normal and 20 trisomic cells were silver-stained. One of the three chromosomes 21 was only moderately stained, and one chromosome 14 was less well stained than in the normal cells. This difference was significant according to our estimation of the staining intensity. Since the results do not reflect differences between patients or techniques, they strongly suggest that there are compensatory relationships of gene dosage between the NORs of different types of acrocentric chromosomes.

摘要

对一名21三体嵌合体患者的190个正常细胞和190个三体细胞中的近端着丝粒染色体模式进行了研究。在联合总数、具有一个、两个或三个联合的有丝分裂数,或涉及两个以上近端着丝粒染色体的联合数方面,未观察到显著差异。两种细胞类型中联合的近端着丝粒染色体总数也没有显著差异。然而,21号染色体在三体细胞中的联合频率明显更高,而所有其他近端着丝粒染色体的联合趋势则有所下降。对20个正常细胞和20个三体细胞的核仁组织区进行了银染。三条21号染色体中的一条仅中度染色,一条14号染色体的染色比正常细胞中差。根据我们对染色强度的估计,这种差异是显著的。由于结果并未反映患者或技术之间的差异,它们强烈表明不同类型近端着丝粒染色体的核仁组织区之间存在基因剂量的补偿关系。

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