FISH技术检测骨髓异常综合征四种常见染色体异常  

Detection of four common abnormal chromosomes by FISH in myelodysplastic syndrome

作　　者：王巍 练有浩 官全生 黄永彬 梁文君 文瑞婷 梁亮 杨志刚 

机构地区：[1]广东医科大学血液病研究室 [2]广东医科大学附属医院血液科,广东湛江524001

出　　处：《中国实验诊断学》2017年第12期2046-2049,共4页Chinese Journal of Laboratory Diagnosis

基　　金：国家自然科学基金资助项目(81500131);湛江市财政资金科技专项竞争性分配项目(2016A06003)

摘　　要：目的评估荧光原位杂交(FISH)技术在检测骨髓增生异常综合征(MDS)常见染色体异常中的价值。方法FISH方法检测47例新诊断MDS患者-5/5q-、-7/7q-、+8、-20/20q-染色体异常,并与15例染色体核型结果比较。结果 47例患者中,-5/5q-、-7/7q-、+8、-20/20q-染色体异常FISH方法总检出率44.7%,其中5q-最常见,其次是+8、-7/7q-,-20/20q-最少见。中期分裂相不足10个时,FISH法可提高染色体异常检出率;分裂相达10个以上,两种方法对上述染色体异常检测结果基本一致。结论本室FISH方法检测MDS患者-5/5q-、-7/7q-、+8、-20/20q-染色体异常总检出率与文献报道基本一致;染色体核型和FISH同时做,可提高MDS患者染色体异常检出率。Objective To evaluate the significance of fluorescence in situ hybridization （FISH）in detecting the com-mon chromosomal abnormalities in patients with myelodysplastic syndrome（MDS）.Methods The-5/5q-,-7/7q-,＋8 and-20/20q-chromosomal abnormalities were detected by FISH in 47 patients with de novo MDS,and the results were compared with those of metaphase cytogenetics in 15 patients.Results The total positive rate of-5/5q-,-7/7q-,＋8 and-20/20q-abnormalities detected by FISH was 44.7%,and 5q-was the most common chromosomal abnormality,then ＋8 and-7/7q-abnormalities followed,-20/20q-was the fewest one.FISH testing can improve the positive rate of chro-mosomal abnormalities in cases with fewer than 10 metaphases,and the results of FISH testing were in accordance with those of metaphase cytogenetics in cases with more than 10 metaphases.Conclusion The total positive rate of-5/5q-,-7/7q-,＋8 and-20/20q-chromosomal abnormalities detected by FISH in our hospital is in accordance with reports.And metaphase cytogenetics and FISH should be carried out at the same time to improve the positive rate of chromosomal abnormalities in MDS patients.

关 键 词：骨髓增生异常综合征 荧光原位杂交 染色体异常 

分 类 号：R551.3[医药卫生—血液循环系统疾病]