中国浙江地区汉族正常人群外周血细胞中BCL-2/IgH易位现象的初步研究

目的 探讨中国浙江地区汉族正常人群外周血中BCL-2／IgH易位频率与该地区较低的滤泡性淋巴瘤发病率之间的相关性。方法 应用巢式PCR技术检测196名浙江地区汉族正常人外周血中BCL-2／IgH易位频率，结合DNA直接测序及生物信息学分析易位染色体在主要断裂点区段的特定断裂位置和参与易位的IgH片段。结果 中国浙江地区汉族人群中BCL-2／IgH易位率为9．66％，低于欧美人群；BCL-2在主要断裂点区的断裂位点主要集中于3055，3115，3165bp3个位点附近；6个IgH片段使用率以IgH6片段为最高；同一个体中可以存在不同起源的BCL-2／IgH易位克隆群。结论 中国浙江地区汉族人群中低的BCL-2／IgH易位率可能是滤泡性淋巴瘤发病率较欧美国家低的原因之一。

BCL-2/IgH translocation in peripheral blood cells of healthy Chinese individuals of Han nationality located in Zhejiang area

Objective To investigate the relationship between the frequency of BCL-2/IgH rearrangement in peripheral blood cells of healthy Chinese individuals of Han nationality located in Zhejiang area and the low incidence of follicular lymphoma (FL). Methods Nested-PCR and direct DNA sequencing were used to detect the Bcl-2/IgH rearrangement in peripheral blood cells of 196 healthy individuals. DNA sequences involved were then searched and aligned in NCBI database to confine the broken points in major breakpoint region and the IgH segments involved. Results First, in this sample the frequency of BCL-2/IgH translocation in Chinese individuals of Han nationality located in Zhejiang area is 9.66%, being much lower than that in North America and Europe countries. Second, the breakpoints tend to fall into 3 clusters: 3055, 3116 and 3165 bp. Usage of J6 segment is most common. Third, There are different subclones of BCL-2/IgH rearrangements in the same individual. Conclusion The low frequency of BCL-2/IgH translocation in healthy Chinese individuals of Han nationality located in Zhejiang area may be one of the reasons for the difference in the incidence of FL between China and Western countries.