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慢性髓细胞白血病(CML)是多能干细胞水平上体细胞突变所致的克隆性疾病。CML杂合子个体遗传多态性研究证实白血病细胞中存在单一的等位基因。其他的克隆性标志有Ph~1染色体等。Ph~1染色体不存在于未受累的细胞如成纤维母细胞和残存的正常造血细胞中。 Ph~1染色体 Ph~1染色体是CML的恒定特征。细胞同步化和高分辨显带技术已证明Ph~1染色体是9和22号的交互移位,t(9;22)。染色体的断点为t(9;22)(q34.1;q11.21)。Ph~1染色体存在于95%
Chronic myeloid leukemia (CML) is a clonal disease caused by somatic mutation at the level of pluripotent stem cells. Studies of genetic polymorphisms in heterozygous CML heterozygotes confirmed the presence of a single allele in leukemic cells. Other clonal markers include the Ph~1 chromosome. The Ph~l chromosome does not exist in unaffected cells such as fibroblasts and residual normal hematopoietic cells. Ph~1 chromosome The Ph~1 chromosome is a constant feature of CML. Cell synchronization and high-resolution banding techniques have shown that the Ph~1 chromosome is an intersegment shift between 9 and 22, t(9;22). The breakpoint of the chromosome is t(9;22)(q34.1;q11.21). Ph~1 chromosome is present at 95%