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

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)(3522),5q-,der(6)t(3;6),der (7)(18717),+8,+der(9)t(1;9),der(10)t(1;10),+11,+12,der(?13)(101358),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.

Detection of Complex Karyotype in A Myelodysplastic Syndrome Cell Line (MUTZ-1) by Metaphase Fluorescence in situ Hybridization

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 Vysion 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 rearrangement, 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) x 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.