慢性淋巴细胞白血病患者IgVH基因突变研究

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%)IgVH 2-5*10发生体细胞突变;1例(3.5%)IgVH 7-4-1*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.

IgVH mutation status in patients with chronic lymphocytic leukemia

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.