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应用间期荧光原位杂交技术检测骨髓增生异常综合征中的7号染色体单体及8号和11号染色体三体。与急性非淋巴细胞白血病的比较。

Detection of monosomy 7 and trisomies 8 and 11 in myelodysplastic disorders by interphase fluorescent in situ hybridization. Comparison with acute non-lymphocytic leukemias.

作者信息

Brizard F, Brizard A, Guilhot F, Tanzer J, Berger R

机构信息

Département d'Hématologie et Oncologie Médicale, Centre Hospitalier Universitaire, Poitiers, France.

出版信息

Leukemia. 1994 Jun;8(6):1005-11.

PMID:8207973
Abstract

Cells from 50 patients with myelodysplastic syndrome (MDS) and 20 patients with acute non-lymphoblastic leukemia (ANLL) were studied by fluorescent in situ hybridization (FISH) using alphoid biotinylated probes to detect numerical chromosome 7, 8 and 11 aberrations in interphase nuclei. FISH data were compared with cytogenetic results. Both methods were in agreement in 25/50 MDS and 20/20 ANLL cases. Trisomy 11 was found neither by cytogenetic study nor by FISH. In 11 MDS patients the percentage of abnormal cells was higher by FISH than by classical cytogenetic analysis. FISH revealed monosomy 7 which was undetectable by karyotypic study in 5-22% cells from 15 MDS patients. It also allowed the identification of two small markers and a ring chromosome in two MDS cases. FISH hence appears to be useful for the detection of minor abnormal clones and is a convenient complement to conventional cytogenetic analysis in the study of MDS.

摘要

采用生物素化的α卫星探针,运用荧光原位杂交(FISH)技术研究了50例骨髓增生异常综合征(MDS)患者及20例急性非淋巴细胞白血病(ANLL)患者的细胞,以检测间期核中7号、8号和11号染色体的数目畸变情况。将FISH数据与细胞遗传学结果进行了比较。在25/50例MDS患者及20/20例ANLL患者中,两种方法的结果一致。细胞遗传学研究及FISH均未发现11号染色体三体。在11例MDS患者中,FISH检测到的异常细胞百分比高于传统细胞遗传学分析。FISH发现15例MDS患者中5%-22%的细胞存在核型分析无法检测到的7号染色体单体。FISH还在2例MDS病例中鉴定出两个小标记染色体及一条环状染色体。因此,FISH似乎有助于检测微小异常克隆,是MDS研究中传统细胞遗传学分析的便利补充。

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