| 宋鹏1 张鑫1 赵海岳2 佟菲1 周晋1△.早幼粒细胞白血病分子遗传学诊疗技术在临床中的应用[J].现代生物医学进展英文版,2012,12(24):4638-4641. |
| 早幼粒细胞白血病分子遗传学诊疗技术在临床中的应用 |
| Promyelocytic Leukemia Molecular Genetic Diagnosis Technologyin Clinical Application |
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| DOI： |
| 中文关键词: 染色体 核型分析 急性早幼粒细胞白血病 |
| 英文关键词: Chromosome Karyotype analysis Acute promyelocytic leukemia |
| 基金项目:国家自然科学基金资助项目（30901736）；辽宁省教育厅资助科研项目（L2010641） |
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| 中文摘要: |
| 目的：综合多种急性早幼粒细胞白血病（APL）分子遗传学检测方法，比较染色体核型分析(CC)检测方法在临床诊疗中的应
用优势。方法：采用急性早幼粒细胞白血病(APL)临床诊断中常用的分子生物学（反转录筑巢式聚合酶链反应--RT-nest-PCR）、细
胞形态学和荧光原位杂交（FISH）方法分别对83 例来本院初、复诊的APL 患者的骨髓标本进行分析，将结果分别与染色体核型分
析(CC)的结果进行比较。结果：83 例APL 患者中染色体诊断出现典型的t(15;17)异位为79 例，占总人数的95.2%；2 例出现复杂
染色体变化即t(15;17)+7 和t(15;17)+9,占总人数的2.4 %；1 例出现t(11;17)异位，占总人数的1.2 %；1 例为正常。PCR 对融合基因
检测阳性率为92.8 %；细胞形态学检测结果阳性率为92.8%；荧光原位杂交阳性率为97.6 %。结论：染色体核型分析是对APL 疾
病诊断的可靠法，特别是在对一些复杂核型的判断上相对于PCR 和细胞形态学以及FISH 的检测方法上均有很大优势，是其他
诊断方法无法取代的。 |
| 英文摘要: |
| Objective: To integrate a variety of acute promyelocytic leukemia (APL) molecular genetic detection method,
comparison of karyotype analysis (CC)detection method in clinical diagnosis application advantages. Methods: We tested chromosomal
abnormalities in bone marrow samples from 83 patients with de novo and relapsed APL, by using RT-nest-PCR, fluorescence in situ
hybridization and morphological staining on the basis of CC. Results: Chromosomal 15 and 17 translocation [t(15;17)] was identified in
79 patients (95.2 %). Two patients showed complex abnormalities with t(15;17)+7 and t(15;17)+9 patients(2.4%). One sample was t(11;
17) patients(1.2 %), and the other one was with normal karyotype. PCR on detection of fusion gene positive rate was (92.8%); the results
showed that the positive rate of the cell morphology test was 92.8% ; Fluorescence in situ hybridization positive rate (97.6 % ).
Conclusion: Compared to PCR, fluorescence in situ hybridization and morphology, chromosomal analysis is an ideal technique in
diagnosis of APL, especially for patients with complex karyotype, that could not be replaced by other diagnostic methods. |
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