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一种显性遗传的细胞遗传学异常:一种可能的细胞分裂突变体。

A dominantly inherited cytogenetic anomaly: a possible cell division mutant.

作者信息

Rudd N L, Teshima I E, Martin R H, Sisken J E, Weksberg R

出版信息

Hum Genet. 1983;65(2):117-21. doi: 10.1007/BF00286646.

DOI:10.1007/BF00286646
PMID:6654324
Abstract

Short-term lymphocyte cultures from three unrelated patients showed an increased frequency of mitoses with separated centromeres and splayed chromatids in the presence of colcemid. We refer to this phenomenon as premature centromere division (PCD). In two of the three patients the frequency of PCD in lymphocytes decreased when colcemid was omitted prior to harvest but was still higher than controls, whereas in the third patient, the frequency appeared unchanged. Cultured fibroblasts from the latter patient exhibited increased tetraploidy and multinucleated cells. Transmission of the trait in the three families was compatible with autosomal dominant inheritance. Time lapse cinemicrographic studies on fibroblasts from one patient demonstrate a shortened metaphase time, suggesting that the separation of chromatids observed in this patient may indeed be premature. The nature of the mutation(s) and phenotype correlation if any is unknown.

摘要

来自三名无亲缘关系患者的短期淋巴细胞培养物显示,在秋水仙酰胺存在的情况下,有丝分裂频率增加,着丝粒分离,染色单体展开。我们将这种现象称为着丝粒过早分裂(PCD)。在三名患者中的两名患者中,收获前省略秋水仙酰胺时,淋巴细胞中PCD的频率降低,但仍高于对照组,而在第三名患者中,频率似乎没有变化。后一名患者的培养成纤维细胞显示四倍体和多核细胞增加。这三个家族中该性状的传递符合常染色体显性遗传。对一名患者的成纤维细胞进行的延时电影显微镜研究表明中期时间缩短,这表明在该患者中观察到的染色单体分离可能确实过早。突变的性质以及与表型的相关性(如果有的话)尚不清楚。

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A dominantly inherited cytogenetic anomaly: a possible cell division mutant.一种显性遗传的细胞遗传学异常:一种可能的细胞分裂突变体。
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Premature centromere division dominantly inherited in a subfertile family.
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Premature centromere division: a mechanism of non-disjunction causing X chromosome aneuploidy in somatic cells of man.着丝粒过早分裂:一种导致人类体细胞中X染色体非整倍性的不分离机制。
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Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.与罗伯茨/短肢畸形综合征相关的染色单体排斥在恶性细胞中降低,且在种间体细胞杂种中不表达。
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Front Cell Dev Biol. 2021 Feb 16;9:634536. doi: 10.3389/fcell.2021.634536. eCollection 2021.
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Cell cycle and centromere FISH studies in premature centromere division.早发性着丝粒分裂中的细胞周期和着丝粒荧光原位杂交研究
BMC Med Genet. 2005 Sep 20;6:33. doi: 10.1186/1471-2350-6-33.
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Environmental genotoxicity evaluation using cytogenetic end points in wild rodents.利用野生啮齿动物的细胞遗传学终点进行环境遗传毒性评估。

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