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急性髓系白血病染色体核型异常分析研究
引用本文:缪扣荣,仇海荣,王蓉,张苏江,钱思轩,范磊,乔纯,洪鸣,张建富,陈丽娟,徐卫,李建勇.急性髓系白血病染色体核型异常分析研究[J].中国实验血液学杂志,2009,17(1):8-11.
作者姓名:缪扣荣  仇海荣  王蓉  张苏江  钱思轩  范磊  乔纯  洪鸣  张建富  陈丽娟  徐卫  李建勇
作者单位:南京医科大学第一附属医院、江苏省人民医院血液科,江苏南京,210029
基金项目:江苏省卫生厅医学科研课题,江苏省六大高峰人才项目 
摘    要:本研究旨在探讨急性髓系白血病染色体核型异常情况。采用直接法或短期培养法制备骨髓细胞染色体,并应用染色体R显带技术对379例患者进行常规细胞遗传学检测。结果表明:379例患者中共检出216例存在克隆性染色体异常,包括19种平衡易位和70种染色体缺失或获得,占所分析患者的56.99%。t(15;17)(95例)为最常见的染色体异常,-Y(22例)为最常见的数目异常,分别占所分析患者的25.86%和5.80%。90.9%的-Y异常与t(8;21)同时出现,占t(8;21)异常的40.81%。各FAB亚型间染色体核型异常存在统计学差异,M3组显著高于其它组(P〈0.05)。男女性别间统计无显著性差异(P〉0.05)。结论:应用R显带技术可检出56.99%的急性髓细胞白血病患者染色体异常,且主要为染色体特异性重排,部分核型异常与特定的FAB亚型相关,这可有助于急性髓系白血病的诊断及分型。

关 键 词:染色体核型  急性髓系白血病  细胞遗传学

Analysis of Chromosome Karyotype Abnormality in Acute Myeloid Leukemia
MIAO Kou-Rong,QIU Hai-Rong,WANG Rong,ZHANG Su-Jiang,QIAN Si-Xuan,FAN Lei,QIAO Chun,HONG Ming,ZHANG Jian-Fu,CHEN Li-Juan,XU Wei,LI Jian-Yong.Analysis of Chromosome Karyotype Abnormality in Acute Myeloid Leukemia[J].Journal of Experimental Hematology,2009,17(1):8-11.
Authors:MIAO Kou-Rong  QIU Hai-Rong  WANG Rong  ZHANG Su-Jiang  QIAN Si-Xuan  FAN Lei  QIAO Chun  HONG Ming  ZHANG Jian-Fu  CHEN Li-Juan  XU Wei  LI Jian-Yong
Institution:(Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province People Hospital, Nanjing 210029, Jiangsu Province, China)
Abstract:This study was aimed to investigate the characteristics of chromosome karyotype abnormality in patients with acute myeloid leukemia. 379 cases of de novo acute myeloid leukemia were enrolled in this study. Chromosome preparations were made on bone marrow cells by using direct method or short-term culture. Chromosome karyotypes were analyzed by R-banding technique. The results indicated that 216 out of 379 patients had clonal chromosome aberrations with the percentage of 56.99%, including 19 kinds of balanced translocations and 70 kinds of chromosome gain or loss. The most common structure and numerical abnormalities were t( 15 ; 17 ) and -Y with the percentage of 25.86% and 5.80%, respectively. -Y was accompanied by t( 8 ;21 ) in 90.9% of the -Y abnormality cases, which accounted for 40.81% of t(8;21 ) positive cases. The abnormality of M3 was significantly higher than the other FAB subtypes(p 〈 0.05 ). No significance was found between the male and female groups for the chromosome aberrations (p 〉 0.05). In conclusion, some specific chromosome aberrations are correlated with specific FAB subtype, which may contribute to the clinical diagnosis and subtyping of the disease.
Keywords:chromosome karyotype  acute myeloid leukemia  cytogenetics
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