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原发性血小板增多症的细胞遗传学特征
引用本文:陆米则,李建勇,段丽敏,潘金兰,仇海荣,沈云峰,薛永权. 原发性血小板增多症的细胞遗传学特征[J]. 实用临床医药杂志, 2006, 10(9): 25-27
作者姓名:陆米则  李建勇  段丽敏  潘金兰  仇海荣  沈云峰  薛永权
作者单位:南京医科大学第一附属医院,血液科,江苏,南京,210029;南京医科大学附属无锡医院,江苏,无锡,214000;苏州大学附属第一人民医院、江苏省血液研究所,江苏,苏州,215006
基金项目:江苏省“135工程”医学重点人才基金(RC2002044)
摘    要:
目的研究原发性血小板增多症(ET)患者的细胞遗传学特征。方法应用经典细胞遗传学(CC)方法R显带技术研究98例初诊ET患者的染色体异常,进一步应用SpectrumRed标记的8号染色体着丝粒DNA探针和间期荧光原位杂交技术(FISH)检测50例患者+8的发生率。结果CC分析98例ET患者除2例无分裂相外,仅6例(6.12%)发现染色体异常:1例13q-、2例5q-、1例7q-、1例der(14)t(1;14)和1例Rob(13;14)。FISH分析50例患者中1例+8。结论CC技术检测ET患者染色体异常发生率为6.25%,且缺乏特征性染色体异常。+8发生率低。

关 键 词:原发性血小板增多症  8号染色体三体  细胞遗传学  荧光原位杂交
文章编号:1672-2353(2006)05-0025-03
修稿时间:2006-03-26

CYTOGENETIC FEATURES OF PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA
LU Mi-ze,LI Jian-yong,DUAN Li-min,PAN Jin-lan,QIU Hai-rong,SHEN Yun-feng,XUE Yong-quan. CYTOGENETIC FEATURES OF PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA[J]. Journal of Clinical Medicine in Practice, 2006, 10(9): 25-27
Authors:LU Mi-ze  LI Jian-yong  DUAN Li-min  PAN Jin-lan  QIU Hai-rong  SHEN Yun-feng  XUE Yong-quan
Abstract:
Objective To investigate the cytogenetic features of patients with essential thrombocytemia(ET).Methods The chromosomal abnormalities of 98 newly diagnosed ET patients were studied by conventional cytogenetics(CC) and R-banding technique.SpectrumRed labeled chromosome 8 centrome specific probe and interphase fluorescence in situ hybridization(FISH) were used to detect trisomy 8 in 50 ET cases.Results CC showed 6.12%(6/98) of ET patients had chromosomal abnormalities,including 1 case with 13q-,2 with 5q-,1 with 7q-,1 with der(14)t(1;14) and 1 with Rob(13;14).FISH detected 1 case with trisomy 8 among 50 cases.Conclusion In this study,6.25% of ET patients had chromosomal abnormalities by meams of CC and no specific abnormalities were found.The frequency of trisomy 8 was low in untreated ET.
Keywords:essential thrombocytemia  trisomy 8  cytogenetics  fluorescence in situ hybridization
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