荧光原位杂交和常规细胞遗传学在慢性粒细胞白血病研究中的应用

目的：应用荧光原位杂交（FISH）和染色体核型分析技术，探讨慢性粒细胞白血病（CML）细胞遗传学特点与临床预后的相关性。方法：采用骨髓细胞直接法和（或）短期培养法制备染色体标本，采用热变性姬姆萨显带技术（RHG）进行染色体核型分析。荧光染色体原位杂交技术检测40例CML患者的BCR／ABL融合基因。回顾分析282例CML的临床及细胞遗传学资料。结果：常规细胞遗传学（CC）分析表明，282例患者中268例Ph染色体阳性，占95．04％；14例Ph染色体阴性，占4．96％。其中250例Ph阳性细胞为100％，占90．32％。12例Ph阳性细胞为30％～99％，占4．48％，核型显示正常与Ph嵌合状态。6例核型为复杂变异异位，占2．24％。41倒除Ph染色体外，还出现额外染色体异常，占15．30％，分别为双Ph，＋8，＋22，-Y，i（17q）等，其中28例为加速或急变患者，占68．29％。应用FISH技术检测，BCR／ABL融合基因阳性34例（舍14例Ph染色体阴性中的8例），占85％；BCR／ABL阴性6例，占15％。结论：在常规细胞遗传学分析的基础上，选用分子遗传学FISH技术可以明显提高染色体异常的检出率及准确率。细胞遗传学对于CML的正确诊断、指导临床治疗、判断预后具有重要价值。

The Study of Fluorescence in situ Hybridization and Conventional Cytogenetics Analysis to Detection of Clonal Chromosomal Aberrations in Chronic Myeloid Leukemia

Objective:To investigate the correlation of prognosis with cytogenetic in chronic myeloid leukemia patients.Methods:Bone marrow direct method and/or 24h culture without phytohaemagglutimin were used to prepare the chromosomes and karyotype analysis was performed with R-banding techniques.Results:Among 282 patients with CML,268 cases(95.04%) were Ph positive,14 cases(4.96%) were Ph negative.In 250 of 268 cases(90.32%),the rate of Ph positive chromosome were 100 percentage.Those in 12 cases(4.48%) were detect...