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带型人类染色体的视觉分类。I. 核型分析与分离染色体分类的比较。

Visual classification of banded human chromosomes. I. Karyotyping compared with classification of isolated chromosomes.

作者信息

Lundsteen C, Lind A M, Granum E

出版信息

Ann Hum Genet. 1976 Jul;40(1):87-97. doi: 10.1111/j.1469-1809.1976.tb00167.x.

DOI:10.1111/j.1469-1809.1976.tb00167.x
PMID:962325
Abstract

Visual karyotyping and visual classification of isolated chromosomes was carried out by seven investigators on 22 trypsin banded metaphases of average quality. The karyotyping experiment resulted in an average error rate of 0-1% (zero-0-4%) and the classification of isolated chromosomes resulted in an error rate of 3% (2-5%). The B and F group chromosomes were found to be most difficult to classify when isolated, while no errors were made of the no. 1 and the X chromosome. Large differences were seen in the resulting error pattern for the individual investigators both with regard to their total error rate and also the chromosome types which they most frequently misclassified. Based upon these error patterns it is suggested that more than 95% of the chromosomes in an average quality material contain features upon which a reliable visual classification can be made. Thus there may be a potential possibility that these chromosomes may be classified by computer on the basis of these features. The fact that visual karyotyping is much more reliable than visual classification of isolated chromosomes indicated that computer classification of chromosomes should include programming capable of making appropriate comparison between the chromosomes in the metaphase and at the same time take into account the expected presence of 23 chromosome pairs for normal cells. This would simulate the human performance of visual karyotyping and make a classification possible of at least some of the remaining 5% difficult chromosomes.

摘要

七位研究人员对22个质量一般的胰蛋白酶显带中期细胞进行了可视化核型分析和单个染色体的可视化分类。核型分析实验的平均错误率为0 - 1%(零至0 - 4%),单个染色体分类的错误率为3%(2 - 5%)。发现B组和F组染色体在单独分离时最难分类,而1号染色体和X染色体没有出现分类错误。在各个研究人员得出的错误模式中,无论是总错误率还是他们最常误分类的染色体类型,都存在很大差异。基于这些错误模式,有人提出,质量一般的材料中超过95%的染色体具有可据此进行可靠可视化分类的特征。因此,有可能基于这些特征通过计算机对这些染色体进行分类。可视化核型分析比单个染色体的可视化分类可靠得多,这一事实表明,染色体的计算机分类应包括能够对中期细胞中的染色体进行适当比较的程序,同时要考虑到正常细胞中预期存在的23对染色体。这将模拟人类进行可视化核型分析的过程,并使至少对其余5%难以分类的染色体进行分类成为可能。

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Visual classification of banded human chromosomes. I. Karyotyping compared with classification of isolated chromosomes.带型人类染色体的视觉分类。I. 核型分析与分离染色体分类的比较。
Ann Hum Genet. 1976 Jul;40(1):87-97. doi: 10.1111/j.1469-1809.1976.tb00167.x.
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Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2021 Feb 25;38(1):122-130. doi: 10.7507/1001-5515.201912029.