累及11p15上NUP98基因的急性杂合性白血病的临床遗传学分析

Clinial genetics research on a new case with hybrid acute leukemia involveing NUP98 gene at 11p15

目的运用细胞遗传学和分子遗传学方法,阐明1例与NUP98基因相关的急性杂合性白血病的临床遗传学特点。方法采用骨髓直接法和短期培养法制备染色体,应用R显带技术进行核型分析;采用3号和11号整条染色体涂染探针进行染色体涂染;用地高辛标记的跨越NUP98基因的BACRP11-120E20探针进行间期和中期荧光原位杂交(FISH)检测。结果R显带分析显示47,XX,t(3;11)(q13;p15),+21;染色体涂抹证实3号和11号染色体之间发生了相互易位;间期和中期FISH均显示该染色体异常累及NUP98基因。结论识别一种累及NUP98基因的新的染色体易位,为下一步研究NUP98基因新的对手基因及其在白血病发病中的作用机制打下基础。

Objective To clarify the characterization of a chromosomal translocation involveing NUP98 at 11p15 in hybrid acute leukemia. Methods Chromosome preparation was made using direct method or short-term culture of bone marrow cells. Karyotypic analysis was carried out by R-banding technique. Chromosome painting was performed using whole chromosome painting（WCP） for chromosomes 3 and 11. Interphase and metaphase fluorescence in situ hybridization（FISH） assays were performed using a BAC RP 11-120E20 （ AC060812） probe, which covered almost entire NUP98 gene at 11p15. Results R-banded analysis revealed a karyotype of 47,XX,t（3,11）（q13,p15）,＋21. Chromosome painting further confirmed this translocation between chromosomes 3 and 11. Both interphaseand metaphase-FISH demonstrated that NUP98 gene was involved in this chromosomal rearrangment. Conclusion We have identified a new chromosomal rearrangement involving NUP98 gene at 11p15. This discovery made a foundation for further research on the new partner gene of NUP98 and its function in leukemogenesis.