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慢性粒细胞白血病急变伴t(3;21)(q26;q22)染色体易位受累基因的研究 被引量：4

Study of genes involved in chronic myeloid leukemia with t (3;21) (q26;q22) in blastic crisis
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摘要 目的探讨慢性粒细胞白血病(CML)急性髓系白血病(AML)变伴 t(3;21)(q26;q22)的受累基因。方法对1例 CML AML 变伴 t(3;21)(q26;q22)患者细胞间期和中期分裂相细胞采用荧光原位杂交技术(FISH)检测 AML1和 bcr/abl 基因重排,RT-PCR 联合序列分析检测 t(3;21)(q26;q22)受累基因。结果 der(3)和 der(21)染色体上均检测到 AML1基因杂交信号,AML1-MDS1-Evil、AML1-MDS1、AML1-EAP 及 Evi1基因均表达,未见 AML1-Evi1融合基因表达,AML1-MDS1-Evi1基因表达水平是 AML1-MDS1、AML1-EAP 表达水平的1.58和1.54倍,患者 Evi1基因表达水平是 HEL 细胞系 Evi1表达水平的2.71倍。结论 t(3;21)(q26;q22)导致形成 AML1-MDS1-Evi1、AML1-MDS1融合基因及 Evi1基因激活,这些继发的分子遗传学异常是 CML 急性变伴 t(3;21)(q26;q22)患者急变发生的分子基础。 Objective To explore genes involved in chronic myeloid leukemia （CML） with t（3 ;21 ） （q26;q22） chromosome translocation in blastic crisis. Methods A case of CML patient with t（3 ;21 ） （q26; q22） in blastic crisis was reported. AML1 and bcr/abl genes were detected by FISH in interphase and metaphase cells. Genes involved in t（3 ;21 ）（q26;q22） were analysed by RT-PCR and sequencing. Results AML1 gene hybridization signal was detected in der （ 3 ） and der （21） chromosomes. AML1-Evil, AML1- MDS1-Evil, AML1-EAP fusion transcripts and Evil gene were detected in mRNA level, but no AML1-Evil fusion transcript. The mRNA expression level of AML1-MDS1-Evil fusion gene was 1.58 and 1.54 times higher than that of AML1-MDS1 and AML1-EAP, respectively. The mRNA expression level of Evil gene of the patient was 2.71 times higher than that of HEL cell line. Conclusion t（ 3 ;21 ） （ q26 ;q22） resulted in the AML1-MDS1-Evil, AML1-MDS1, AML1-EAP fusion transcripts, and Evil gene was also activated by the translocation. These secondary aberrations should be the molecular basis of CML patient with t（3 ;21 ） （q26; q22 ） in blastic crisis.
作者 刘旭平 张美荣 代芸 张莉 李睿 郝玉书 肖志坚
机构地区 中国医学科学院 中国协和医科大学血液学研究所 血液病医院 实验血液学国家重点实验室
出处 《中华血液学杂志》 CAS CSCD 北大核心 2006年第5期310-313,共4页 Chinese Journal of Hematology
基金 国家自然科学基金(30270573)
关键词 白血病 髓样 慢性 急变期 染色体易位 基因 AML1 基因 Evi1 Leukemia, myeloid, chronic Blastic crisis Chromosome translocation Gene,AML1 Gene, Evil
分类号 R733.72 [医药卫生—肿瘤] R733.71 [医药卫生—肿瘤]
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参考文献11

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共引文献2

同被引文献52

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中华血液学杂志
2006年 第5期

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