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Ph~1染色体为慢性粒细胞白血病(慢粒)的特殊标志,其特点为9号及22号染色体的长臂各有一段发生断裂和互相易位[t(9;22)(q34;q11)]。结果9号染色体上的abl 原瘤基因转移至22号染色体的断裂点集结区bcr 基因的5’一侧,出现一新的异常的杂交基因—bcr/abl,由此产生8.5Kb 的mRNA。在此mRNA 中bcr 的外显子b2或b3与abl 的外显子2联接成b2-a2或b3-a2。此mRNA 转译出210KD 的蛋白质(P210)有增加酪氨酸激酶活性的作用。这些分子改变与Ph~1(+)的慢粒的病理生理学有关。
Ph~1 chromosome is a special marker of chronic myelogenous leukemia (Chronic Granule), which is characterized by the rupture and mutual translocation of the long arms of chromosomes 9 and 22 [t(9;22)(q34;q11) ]. As a result, the abl proto-oncogene on chromosome 9 was transferred to the 5' side of the bcr gene in the collection site of the 22nd breakpoint, and a new abnormal hybrid gene, bcr/abl, appeared, resulting in 8.5 kb of mRNA. In this mRNA the exon b2 or b3 of bcr and the exon 2 of abl are linked into b2-a2 or b3-a2. This mRNA translates to a 210KD protein (P210) that increases tyrosine kinase activity. These molecular changes are related to the pathophysiology of the slow-granules of Ph~1(+).