间期荧光原位杂交技术检测骨髓增生异常综合征-7/7q-染色体异常的价值

Detection of-7/7q-chromosome abnormality in myelodysplastic syndromes by interphase fluorescence in situ hybridization

目的探讨应用间期荧光原位杂交(FISH)技术检测7号染色体/7号染色体长臂缺失(-7/7q-)异常在骨髓增生异常综合征(MDS)中的价值。方法采用常规细胞遗传学(CC)和间期FISH检测技术对72例MDS患者和8例正常对照者的骨髓细胞进行分析,比较CC和FISH检测-7/7q-异常的情况。结果 72例MDS中,12例CC检测阳性,发生率16.7%。间期FISH检测24例阳性,发生率33.3%。两种方法检出率有统计学差异(P<0.05)。结论间期FISH技术敏感性高于CC,并能发现和纠正CC分析中的漏检异常。

Objective To investigate the value of detecting the monosomy 7 deletion（-7/7q-） using fluorescence in situ hybridization（FISH） in patients with myelodysplastic syndromes（MDS）.Methods Common cytogenetics（CC） and interval FISH methods were used to analyzed the bone marrow cells in 72 cases of MDS patients and etght normal controls,and compared with their-7/7q-chromosome abnormality.Results Using CC,12 patients（16.7%） with-7/7q-in 72 case of MDS patients were found.However,24 patients（33.3%） with-7/7q-were found using FISH.There was significant difference between the two methods in detecting abnormal karyotypes in MDS（P0.05）.Conclusions Interval FISH method is more sensitive for detection than CC,and can find and lower the rate of examine leakage of CC method.