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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 VysionTMM-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。
The purpose of this study was to observe the genetic changes of MDS cell line MUTZ-1 cells with chromosome 5 deletion. Karyotype analysis of chromosomal specimens was performed firstly by R-banding technique. Then Vysis Spectra VysionTMM-FISH was used as a probe to detect and analyze the complex abnormal karyotypes. The results of M-FISH showed that there were obvious high-frequency chromosome translocations, insertions, ruptures, reconnections, and deletions. The number of chromosomes was 50, xx, der (1) t (1), ins (1; 14), + der (2) t (2; 19), der (3) t Der (7) (18 :: 7 :: 17), +8, + der (9) t (1; 9), der (10) t Der (14) t (14,15), der (15) t + 8, der (13) (10 :: 13 :: 5 :: 8), der (15; 21) × 2, +17, +18, -21, -22.Conclusion: MUTZ-1 of MDS cell line has significant and complicated karyotype changes under the M-FISH test.M-FISH can increase the highly complex The accuracy of abnormal chromosome detection can be helpful in the diagnosis and prognosis of MDS.