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囊性纤维化细胞与正常细胞在卫星体关联程度上的差异。

Differences between cystic fibrosis and normal cells in the degree of satellite association.

作者信息

Ravia Y, Avivi L, Goldman B

出版信息

Hum Genet. 1985;71(4):294-300. doi: 10.1007/BF00388454.

Abstract

The degree of satellite association was found to be significantly higher in phytohemagglutinin (PHA)-stimulated lymphocytes from cystic fibrosis (CF) patients than from those of control individuals. PHA-stimulated lymphocytes from obligatory heterozygotes for the CF mutant allele showed an intermediate degree of satellite association. The degree of satellite association was estimated by the frequency of cells exhibiting associations, by the number of associations per cell, and by the number of chromosomes in an association. The differences in the degree of satellite association were dependent on the concentration of colchicine used for cell arrest. These findings may assist in developing a diagnostic method for the early identification of heterozygotes for the CF allele and for prenatal detection of CF homozygous fetuses.

摘要

研究发现,囊性纤维化(CF)患者经植物血凝素(PHA)刺激的淋巴细胞中,卫星体关联程度显著高于对照组个体的淋巴细胞。CF突变等位基因的 obligatory 杂合子经PHA刺激的淋巴细胞显示出中等程度的卫星体关联。卫星体关联程度通过出现关联的细胞频率、每个细胞的关联数量以及一个关联中的染色体数量来估计。卫星体关联程度的差异取决于用于细胞阻滞的秋水仙碱浓度。这些发现可能有助于开发一种诊断方法,用于早期识别CF等位基因的杂合子以及产前检测CF纯合胎儿。

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