慢性淋巴细胞白血病患者IgVH基因突变研究

IgVH mutation status in patients with chronic lymphocytic leukemia

目的探讨我国慢性淋巴细胞白血病（CLL）患者IgVH基因各家族成员的发生频率以及突变情况。方法应用多重PCR技术检测29例CLL患者的IgVH基因突变，纯化PCR扩增产物后直接测序，测序结果应用IMGT／V—QUEST数据库进行比对分析，明确有无IgVH突变及突变位置。结果21例患者有体细胞突变，占CLL患者的72.4％；8例无突变。VH3家族16例，占CLL患者的55．2％，其中体细胞突变13例，占81．2％；VH4家族11例，占CLL患者的37．9％，其中突变7例，占63．6％；1例（3．5％）IgVH2-5＊10发生体细胞突变；1例（3．5％）IgVH7-4-1＊02无突变；未发现VH1、VH5和VH6家族成员。结论我国CLL患者IgVH基因家族表达比例与西方国家存在显著差异，可能与种族和环境因素有关，这也可能是西方国家与我国CLL发病率差异的原因之一。

Objective To evaluate the frequency and mutation status of IgVH gene expression in patients with chronic lymphocytic leukemia （CLL） in China. Methods IgVH mutation was detected by multiplex PCR and directly sequencing in 29 CLL patients. IgH somatic hypermutation and mutation site were analysed by IMGT/V-QUEST. Results Of 29 CLL patients, 21 had IgVH mutation （72%）. The most frequently expressed VH gene family was found to be VH3 （55%） followed by VH4 （38%）, VH2 （3.5%） and VH7 （3.5%）, with no expression of VH1, VH5 and VH6. Conclusions The expression frequency of IgVH gene families in Chinese CLL patients is significantly different from that in Western CLL patients, suggesting the involvement of ethnic and/or environmental factors in CLL development, which might partly explain the different incidence of CLL between China and Western countries.