慢性淋巴细胞白血病的分子细胞遗传学

Molecular Cytogenetics of Chronic Lymphocytic Leukemia

研究慢性淋巴细胞白血病（ＣＬＬ） 的方法最初是建立在细胞遗传学水平上的，但由于慢性淋巴细胞白血病的癌细胞在体外有丝分裂行为低，再者，染色体显带技术分辨率不高，使得这一方法具有局限性。荧光原位杂交（ＦＩＳＨ）是细胞遗传学与分子遗传结合的技术，它可以检测染色体的各种畸变，如三体、缺失和易位断裂等，它不要求有详细的物理图谱和了解相关基因，也不需要分离出单细胞．用ＦＩＳＨ 分析ＣＬＬ的染色体畸变，畸变类型按发生率由大到小依次是１３ｑ１４ 缺失，１１ｑ２２－ ｑ２３ 缺失，１２ 染色体三体，１７ｐ１３ 缺失和６ｑ２１ 缺失．

The analyses of chronic lymphocytic leukemia (CLL) are initially based on cytogenetic studies.However,cytogenetic studies are confined by the low in vitro mitotic activity of tumour cells and the limited resolution of chromosome banding.As a complement of cytogenetic and molecular genetic techniques,fluorescence in situ hybridization (FISH) allows the detection of aberrations such as trisomies,deletions,and translocation breakpoints on the single cell level in dividing as well as nondividing cells without the prerequisite of detailed physical maps or knowlege of involoved genes.As detected by FISH,the most common chromosome abnormalities of CLL are deletions in band 13q14,followed by deletions in 11q22-q23,trisomy 12,deletions in 17p13 and deletions in 6q21.