B细胞淋巴瘤bcl-2基因重排与14号染色体微卫星改变的研究

Bcl-2 gene rearrangement and 14 chromosome microsatellite alteration in B-cell Non-Hodgkin's lymphoma

目的研究bcl-2/IgH基因重排与微卫星DNA改变在B细胞淋巴瘤发生发展中的作用以及bcl-2/IgH基因重排与微卫星不稳定和杂合性缺失之间的关系。方法应用巢式PCR方法检测bcl-2/IgH基因重排;选取14号染色体上2个微卫星多态性标记,采用聚合酶链反应-单链构象多态性分析法(PCR-SSCP)检测37例B细胞淋巴瘤中微卫星不稳定和杂合性缺失。结果 37例B细胞淋巴瘤中,bcl-2/IgH基因重排频率为24.3%(9/37);微卫星不稳定发生率为48.6%(18/37),杂合性缺失发生率为40.5%(15/37),其中D14S65位点微卫星不稳定和杂合性缺失频率较高,分别为29.7%(11/37)和27%(10/37)。经统计学分析结果显示:D14S65位点bcl-2/IgH基因重排与微卫星不稳定有关(P<0.05),与杂合性缺失无关(P>0.05);但D14S45位点bcl-2/IgH基因重排与微卫星不稳定和杂合性缺失无关(P>0.05)。结论 D14S65是B细胞淋巴瘤中敏感的检测位点,bcl-2/IgH基因重排和微卫星不稳定性可能共同导致B细胞淋巴瘤的发生。

Objective To evaluate the role of bcl-2 gene rearrangement and microsatellite DNA alteration in pathogenesis of B-cell lymphoma, and to discuss the relationship of bcl-2/IgH gene rearrangement with microsatellite instability and loss of heterozygosity. Methods Thirty-seven cases of B-cell lymphoma were studied for bd-2 gene rearrangement with nested-PCR method;two microsatellite makers located at chromosome 14 were selected to detected microsatellite alterations （MSI and LOH ）by single-strand conformation polymorphism （PCR-SSCP）. Results Rearrangement rate of bcl-2 gene was 24. 3 % （9/37） in 37 B-cell lymphoma cases ; Positive rate of MSI was 48.6% （18/37） ,while positive rate of LOH was 40. 5% （15/37）. The high frequency of MSIZLOH was at locus of D14S65 （29.7% ,27% ）. Bcl-2/IgH gene rearrangement was correlated with MSI at D14S65 （P 〈 0. 05 ）, while no correlation was found between MSI or LOH and bcl-2/IgH gene rearrangement at D14S45 （P 〉 0. 05 ）. Conclusion D14S65 is sensitive microsatellite loci in B-cell lymphoma, bcl-2/IgH gene rearrangement and MSI might play a role in pathogenesis of B-cell lymphoma.