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通过荧光原位杂交技术检测急性非淋巴细胞白血病和骨髓增生异常综合征中的7号染色体单体。

Detection of monosomy 7 by fluorescence in situ hybridization in acute nonlymphocytic leukemia and myelodysplastic syndrome.

作者信息

Nakagawa H

机构信息

Third Department of Medicine, Kyoto Prefectural University of Medicine, Japan.

出版信息

Jpn J Hum Genet. 1993 Sep;38(3):257-66. doi: 10.1007/BF01874136.

DOI:10.1007/BF01874136
PMID:8260718
Abstract

Fluorescence in situ hybridization (FISH) with a chromosome 7 specific alpha satellite DNA probe was used to detect monosomy 7 in interphase and metaphase cells obtained from patients with myelodysplastic syndrome (MDS) and acute nonlymphocytic leukemia (ANLL). Chromosome analysis revealed monosomy 7, either alone or as part of a complex chromosome abnormality, in all cell samples. FISH analyses of 12 marrow samples and a blood sample using a chromosome 7 specific alpha satellite DNA probe revealed a single fluorescence spot in 80.5-97.5% of interphase cells indicating monosomy 7. In contrast, 83.5-92.0% of the same cells had two copies of chromosome 17 as two fluorescent spots were detected using a chromosome 17 specific alpha satellite DNA probe used as a positive control. The proportion of interphase cells with monosomy 7 did not correlated with the percentage of metaphase cells with monosomy 7 detected by conventional karyotyping or with the percentage of blast cells in the bone marrow.

摘要

采用7号染色体特异性α卫星DNA探针进行荧光原位杂交(FISH),以检测骨髓增生异常综合征(MDS)和急性非淋巴细胞白血病(ANLL)患者的间期细胞和中期细胞中的7号染色体单体。染色体分析显示,所有细胞样本中均存在7号染色体单体,其可为单独存在或作为复杂染色体异常的一部分。使用7号染色体特异性α卫星DNA探针,对12份骨髓样本和1份血液样本进行FISH分析,结果显示80.5% - 97.5%的间期细胞中有一个荧光点,提示存在7号染色体单体。相比之下,作为阳性对照,使用17号染色体特异性α卫星DNA探针检测时,83.5% - 92.0%的相同细胞中有两个荧光点,表明存在两条17号染色体。间期细胞中7号染色体单体的比例,与通过传统核型分析检测到的中期细胞中7号染色体单体的百分比,或与骨髓中原始细胞的百分比均无相关性。

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Jpn J Hum Genet. 1993 Sep;38(3):257-66. doi: 10.1007/BF01874136.
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