Department of Medicine, The University of Sydney, Nepean Hospital, Penrith, New South Wales, Australia.
Br J Haematol. 2008 Jun;142(2):238-45. doi: 10.1111/j.1365-2141.2008.07188.x. Epub 2008 May 22.
We report the genetic analysis of a large multi-generational family composed of 144 individuals in which 11 members have been diagnosed with chronic lymphocytic leukaemia (CLL). The observation of a significant over-representation of monoclonal B-cell lymphocytosis (MBL) in unaffected family members strongly supports MBL being a surrogate marker of carrier status. A genome-wide linkage scan of the family using high-density 10K single nucleotide polymorphisms provided no significant evidence for a single gene model of disease susceptibility, inviting speculation that susceptibility to CLL has a more complex basis. The absence of a correlation in IGHV usage between affected family members does however argue strongly against exposure to a single super-antigen in disease development.
我们报告了一个大型多代家族的遗传分析，该家族由 144 个人组成，其中 11 人被诊断患有慢性淋巴细胞白血病（CLL）。观察到未受影响的家族成员中存在显著的单克隆 B 细胞淋巴增生症（MBL）过度表达，这强烈支持 MBL 是携带者状态的替代标志物。使用高密度 10K 单核苷酸多态性对该家族进行全基因组连锁扫描，没有发现疾病易感性的单一基因模型的显著证据，这引发了这样一种猜测，即 CLL 的易感性具有更复杂的基础。然而，受影响的家族成员之间在 IGHV 使用上没有相关性，这强烈反对在疾病发展过程中暴露于单一超抗原。
