This study was aimed to investigate the cytogenetic changes of MDS cell line ( MUTZ-1 ) with chromosome 5q deletion. R-banding analysis was used to identify chromosome aberrations in MDS cell line and Vysis Spectra VysionTM M-FISH was used to further characterize chromosomal complex karyotype. The results indicated that M-FISH exhibited obvious chromosomal aberrations with high frequency including translocation, insertion, breakage and rear rangement, deletion and increasement of chromosome number, the complex karyotype of MUTZ-1 was shown as 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. It is concluded that M-FISH analysis revealed obvious changes in complex karyotype of MDS cell line MUTZ-1, and the M-FISH technique can increase accuracy of detection for chromosomal complex karyotype, and help diagnosis and prognostic evaluation of MDS.%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.
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