M-FISH 用于骨髓增生异常综合征细胞株MUTZ-1复杂核型的检测分析

             作者：陈宝安，夏国华，李建勇，肖冰，邵泽叶

                         陈宁娜，高冲，吴雨洁

【摘要】  本研究的目的是观察伴有5号染色体缺失的MDS 细胞株MUTZ-1细胞的遗传学变化。首先采用R显带技术对染色体标本进行核型分析，再以Vysis Spectra VysionTM M-FISH作为探针，检测并分析其复杂异常核型。结果表明： M-FISH分析显示有明显的高频率染色体的易位、插入、断裂与重接、缺失、数目增多；染色体分析揭示核型为50，xx，der(1) t(1；2)，ins(1；14)，+der(2)t(2；19)，der(3)t(3；5)，der(3)(3::5::22)，5q-，der(6)t(3；6)，der(7)(18::7::17)，+8，+der(9)t(1；9)，der(10)t(1；10)，+11，+12，der(?13)(10::13::5::8)，der(14)t(8；14)，der(14)t(14，15)，der(15)t(15；21)×2，+17，+18，-21，-22. 结论: MDS 细胞株MUTZ-1在M-FISH检测下有显著复杂的核型变化；M-FISH能增加高度复杂的异常染色体检测的准确性，有助于MDS的诊断和预后评估。

【关键词】  骨髓增生异常综合征

　　Cytogenetic studies play a major role in confirmation of diagnosis and prediction of clinical outcome in MDS，and have contributed to the understanding of its pathogenesis. No cytogenetic abnormality is specific for MDS or for a specific morphologic subgroup of MDS［1］.      However，some unique cytogenetic/morphologic correlations exist，the most common of which is the “5q-syndrome”. In this report，we describe a myelodysplastic syndrome cell line (MUTZ-1)  from a little girl diagnosed as having REAB with complex karyotype by metaphase fluorescence in situ hybridization (M-FISH).

　　Materials and Methods

　　Reagents and

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