真性红细胞增多症细胞遗传学探究.docVIP

真性红细胞增多症细胞遗传学探究 　【摘要】 为了研究真性红细胞增多症(polycythemia vera, PV)的细胞遗传学特点，并探讨间期荧光原位杂交(fluorescence in situ hybridization, FISH)技术在检测PV中8三体和9三体的价值，采用常规细胞遗传学(conventional cytogenetics, CC)技术检测50例初诊PV患者，用间期FISH技术检测PV患者中的8三体和9三体，并以8名正常人骨髓细胞作为对照。 结果表明：50例PV患者中CC检出3例核型异常，1例为8三体，1例为Y染色体缺失，1例为11号染色体倒位。FISH检测2例为8三体，1例与CC检测结果一致。CC未检出9三体， FISH检出1例9三体。 结论：PV患者中染色体异常发生率偏低，其中8三体和9三体发生率略低于国外报道，可能与样本的选择及数量的大小有关；间期FISH技术对检测三体有重要价值，是CC的重要补充。 【关键词】 真性红细胞增多症 荧光原位杂交 细胞遗传学 Cytogenetic Analysis in Patients with Polycythemia Vera Abstract In order to evaluate the incidence of chromosomal abnormalities in patients with polycythemia vera(PV) accurately and to investigate the value of fluorescence in situ hybridization (FISH) technique in the detection of trisomies 8 and 9, conventional cytogenetics (CC) technique was used to detect karyotype and interphase FISH was used to detect trisomies 8 and 9 in 50 newly diagnosed PV and 8 normal individuals. The results showed that out of 50 cases, the 3 cases had chromosome karyotype abnormality, including trisomy 8, deletion of chromosome Y and inversion of chromosome 11 by CC technique. FISH method detected two cases of trisomy 8, including one case confirmed by CC technique, and one case of trisomy 9 neglected by CC technique. It is concluded that the incidence of chromosomal abnormalities in patients with PV is rare, and the incidence of trisomy 8 and trisomy 9 found in this study are relatively lower than that have been reported which may be related to the limited number of samples. Interphase FISH, as an important complement to CC, is a useful method for the detection of trisomies 8 and 9. Key words polycythemia vera ; fluorescence in situ hybridization ; cytogenetics 真性红细胞增多症(polycythemia vera，PV)是一种慢性克隆性骨髓增生性疾病。国外报道，PV患者中染色体异常发生率约15%-25%，5、8、9和20号染色体异常多见，其中8号染色体三体(8三体)和9号染色体三体(9三体)是该疾病最常见的染色体数目异常。染色体核型可能对于PV诊断、预后判断和检测克隆消长等具有重要意义［1，2］。我们采用常规细胞遗传学(conventional cytogenetics，CC)技术检测50例PV患者的染色体核型，同时用间期荧光原位杂交(fluorescence in situ hybridization，FISH)技术检