恶性淋巴瘤PRDM1基因突变的研究  

The study on mutations of PRDM1 in malignant lymphoma

作　　者：夏海龙[1] 陈晓文[1] 程歆[1] 王庆义[1] 鲁海燕[1] 宋琴[1] 

机构地区：[1]安徽医科大学第一附属医院血液科,合肥230022

出　　处：《安徽医科大学学报》2011年第11期1198-1201,1211,共5页Acta Universitatis Medicinalis Anhui

基　　金：安徽省教育厅自然科学基金(编号:2006KJ333B)

摘　　要：目的探讨恶性淋巴瘤中肿瘤抑制基因PRDM1的突变类型及其与恶性淋巴瘤表型之间的关系。方法采用PCR法结合DNA直接测序技术对166例淋巴瘤PRDM1基因的5'调控区及全部7个外显子核苷酸序列进行测序。结果 PRDM1第2、4、6、7外显子及5'调控区碱基发生变异,其中第2、4、7外显子中的碱基变异为SNP,第6外显子为新的突变位点,第2、4、6外显子碱基变异为错意突变;PRDM1基因突变/SNP在本组病例中发生率为23.5%,在非霍奇金淋巴瘤(NHL)、霍奇金淋巴瘤(HL)中,PRDM1基因突变率分别为26.3%、10.3%;在B细胞淋巴瘤中,PRDM1基因变异率为38.8%,在22例T细胞淋巴瘤中未检测到PRDM1基因突变。结论 PRDM1基因突变可能是淋巴瘤尤其是B细胞淋巴瘤发病的重要机制之一,PRDM1基因突变与B细胞淋巴瘤表型有关。Objective To study the mutations of tumor suppressor gene PRDM1 in malignant lymphoma and explore the relationships between PRDM1 mutations and phenotype in malignant lymphoma.Methods 5 ‘regulatory region and all 7 exons of PRDM1 sequences in 166 cases of lymphoma were sequenced by polymerase chain reaction combined with DNA sequencing technology.Results We found that nucleotide variation in the exon 2,4,6,7 and 5’ regulatory region of PRDM1 occurred,of which the exon 2,4,7 nucleotide variation was SNP,exon 6 was the new mutations,exon 2,4,6 variation was all missense mutation.The proportion of gene mutation/SNP in PRDM1 occurred in this group of patients was 23.5%.In NHL and HL,the proportion of gene mutation in PRDM1 accounted for 26.3%,10.3% respectively.38.8% PRDM1 gene mutation was detected in B cell lymphoma,and none PRDM1 gene mutation was detected in 22 patients with T-cell lymphoma.Conclusion Gene mutation in PRDM1 may be a particularly important mechanism for pathogenesis of B-cell lymphoma,which is associated with B cell lymphoma phenotype.

关 键 词：恶性淋巴瘤 PRDM1基因 基因突变 SNP 

分 类 号：R733.4[医药卫生—肿瘤]