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目的：分析在荧光原位杂交技术慢性淋巴细胞白血病遗传学异常检测中的应用，并分析相关指标在评价患者预后中的应用。方法：对我院收治的45 例初诊CLL患者采用荧光原位杂交技术进行特异性探针D13S25(13q14.3)、RB1(13q14)、p53(17p13)、 ATM(11q22.3)、以及CSP12(12 号染色体3 体)染色体标本检测，分析CLL 患者遗传学异常的发生率。采用实时定量PCR 检测 miR-15a 和miR-16-1与CLL 患者遗传学异常的相关性。结果：45 例CLL初诊患者中，荧光原位检测发现CLL遗传学异常37 例， CLL遗传学异常率82.22%。其中d（13q14.3）遗传异常13 例，d（13q14）遗传异常7 例，d（11q22-23）遗传异常6 例，d（17p13）遗传异常5 例，12 号染色体三体异常6 例，遗传学异常多呈异质性。实时定量PCR 检测发现miR-15a 和miR-16-1 与d（13q14）遗传异常显著相关。结论：荧光原位杂交技术是一种检测CLL遗传学异常的快速、灵敏方法，可以提高CLL遗传异常检出率。miR-15a 和 miR-16-1 可以预测d（13q14）遗传异常CLL患者预后。

英文摘要:

Objective: To investigate the clinical value of fluorescence in situ hybridization (FISH) in the detection of genomic aberration in chronic lymphocytic leukemia (CLL).Methods:FISH was used for 45 patients who were newly diagnosed as CLL in our hospital. Five types of fluorescence probes with labeled DNA probes were included as sequence specific probes: D13S25 for 13q14.3, P53 for 17p13.1, ATM for 11q22.3, RB1 for 13q14 and chromosomes 12 and the incidence of cytogenetics aberrations in CLL was analyzed.The expression of miR-15a and miR-16-1 in CLL patients was tested via quantitative polymerase chain reaction (Q-RT-PCR).Results:The results showed that in 45 patients, 37 cases (82.22%) were abnormal including 13 cases of D13S25 deletion, 7 RB1 deletion, 6 ATM deletion, 5 P53 deletion and 6 cases of trisomia 12. The abnormal rate of cytogenetics aberrations in CLL was 82.22% . normalized The expression levels of miR-15a and miR-16-1 in the patients with d (13q14) were significantly higher than the control group.Conclusion:The FISH is efficient and may improve the detectable rate of chromosomal abnormalities in CLL. Detection of miR-15a and miR-16-1 can be applied in evaluating the prognosis of CLLwith 13q14 deletion.

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