白血病bcr/abl融合基因的定量检测及临床意义

Clinical significance of detection of bcr/abl gene in chronic myeioid leukemia.

目的探讨慢性粒细胞性白血病(ehron ic myeloid leukem ia CML)ber/ab l融合基因检测及意义。方法采用荧光定量PCR(FQ-PCR)检测56例慢性粒细胞性白血病中ber/ab l融合基因的表达。结果对照组bcr/ab l基因表达均为阴性。56例慢性粒细胞性白血病病人bcr/ab l基因表达阳性率为87.5%(49/56),表达值范围3.0×107-7.9×107基因拷贝/L;33例CML患者Ph染色体分析结果中25例为Ph(+)/bcr(十),2例为Ph(-)/bcr(+),4例Ph(+)/bcr(-),1例Ph(-)/bcr(-);8例CML患者治疗前ber/ab l基因表达均值为(2.60±0.9)×107基因拷贝/L,治疗后为(1.78±0.6)×107基因拷贝/L,两者具有显著性差异(P<0.05=。结论bcr/ab l融合基因表达水平的定量检测及动态观察,对CML的临床诊断、疗效观察和预后具有重要意义。

Objective： To investiate the clinical significance of the detection of bcr. /abl gene in chronic myeloid leukemia （CML）. Methods： Expression of bcr/abl gene was determined by fluorogenic probe quantitative RT- PCR （FQ- RT- PCR） in 56 cases of CML. Results： No bcr/abl gene was revcaled in the control group, while in 56 cases of CML group the positive rate was 87. 5% （49/56） with an average bcr/abl gene expression of 3.0 × 10^7 - 7. 9 × 10^7 copies/L. The results of Ph chromatosome analysis showed that 25 patients were Ph （ ＋ ） /bcr （ ＋ ）, 2 patients were Ph （ - ） /bcr （ ＋ ）, 4patients were Ph （ ＋ ） /hcr （ - ） and 1 patients were Ph （ - ） /bet （ - ） respectively. In 8 patients, before a - interferon therapy, average bcr/abl gene expression was （2. 60 ±0. 9） × 10^7 copies/L, while after a - interferon therapy, the average bcr/abl gene expression was （ 1.78 ±0. 6） × 10^7 copies/L. The difference between two groups was significant （P 〈 0. 05 ）. Conciusion： The quantitative detection of ber/abl gene expression and dynamic evolution can help to make diagnosis, determine therapeutic effect and prognosis for CML.