THE EXPRESSION OF THE MAIN AND ALTERNATIVE TRANSCRIPT (SORL1 Delta2) OF THE SORL1 GENE IN CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS AFFECTED BY THE CHORNOBYL ACCIDENT.

I V Abramenko, N I Bilous, A A Chumak, I S Diagil, Z V Martina
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引用次数: 0

Abstract

Objective: to study clinical-hematological data and expression of the main and alternative transcripts of SORL1 genein chronic lymphocytic leukemia (CLL) patients affected by the Chornobyl catastrophe.

Methods: Analysis was performed in the main group of 34 CLL patients irradiated due to the Chornobyl NPP acci-dent (30 clean-up workers, and 4 evacuees) and in the control group of 27 non-irradiated CLL patients. Groups ofpatients were comparable by age, sex, stage of disease, mutational status of IGHV genes. Expression of the main andalternative transcripts of SORL1 gene was evaluated by Quantitative Real-time polymerase chain reaction (PCR). TheIGHV gene mutational status, TP53 and SF3B1 mutations were studied by PCR followed by direct sequencing. Data wereanalyzed with the SPSS software package, version 20.0.

Results: Relative expression level of the main transcript of SORL1 gene was low (mean 1.71 ± 0.55, median 0.57),did not correlate with the IGHV gene mutational status, TP53 and SF3B1 mutations, stage of disease. The expressionof B transcript was not detected, F transcript was expressed at a very low level in 9 patients. The average relativeexpression level of SORL1-Δ2 transcript was 14.1 ± 6.04 (median 3.48; range 0.01-90.51). The expression of SORL1-Δ2transcript above the median was more frequent among patients on C stage (p = 0.001), and in patients with unmu-tated IGHV genes was associated with an extremely negative course of CLL (median of overall survival 9 months vs61 months at low expression). Relative expression levels of the main and alternative transcripts of SORL1 gene inpatients of the main and the control groups did not differ.

Conclusions: Our preliminary data suggest that increased expression of SORL1-Δ2 transcript in CLL patients withunmutated IGHV genes can be considered as a negative prognostic marker.

受切尔诺贝利事故影响的慢性淋巴细胞白血病患者中SORL1基因的主要和替代转录本(SORL1 δ ta2)的表达。
目的:研究受切尔诺贝利灾难影响的慢性淋巴细胞白血病(CLL)患者的临床血液学资料及SORL1基因主要和替代转录本的表达。方法:对因切尔诺贝利核电站事故辐照的34例CLL患者(清理工人30例,疏散人员4例)为主组和未辐照CLL患者27例进行分析。各组患者在年龄、性别、疾病分期、IGHV基因突变状态等方面具有可比性。采用实时荧光定量聚合酶链反应(Quantitative Real-time polymerase chain reaction, PCR)检测SORL1基因主转录本和替代转录本的表达情况。采用PCR法研究ighv基因突变状态、TP53和SF3B1基因突变,并进行直接测序。数据分析采用SPSS软件包,20.0版。结果:SORL1主要转录本相对表达量较低(平均1.71±0.55,中位数0.57),与IGHV基因突变状态、TP53和SF3B1突变、疾病分期无关。9例患者未检测到B转录本表达,F转录本极低表达。SORL1-Δ2转录本的平均相对表达量为14.1±6.04(中位3.48;范围0.01 - -90.51)。SORL1-Δ2transcript高于中位数的表达在C期患者中更为常见(p = 0.001),在未突变的IGHV基因患者中,与CLL的极阴性病程相关(总生存期中位数为9个月,低表达时为61个月)。SORL1基因主要转录本和备选转录本的相对表达水平在主要组和对照组患者中没有差异。结论:我们的初步数据表明,在未突变的IGHV基因的CLL患者中,SORL1-Δ2转录物的表达增加可被视为阴性预后标志物。
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来源期刊
Problemy radiatsiinoi medytsyny ta radiobiolohii
Problemy radiatsiinoi medytsyny ta radiobiolohii Medicine-Radiology, Nuclear Medicine and Imaging
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