肿瘤细胞遗传学—培训课件.pptVIP

? 姐妹染色单体交换(sister chromatid exchange, SCE)：指姐妹染色单体同源部位发生的片段互换。 ⒉ 姐妹染色单体交换率增高 ? 体外培养的Bloom综合征细胞株染色体易发生断裂并形成结构畸变，4％-27％的培养细胞中可以看到染色体断裂和重排，如四射体。 3. 染色体结构畸变增加 图 示染色体断裂与重排 图 示四射体 ⒈ Bloom综合征基因定位 Bloom综合征是一种AR遗传病，致病基因BLM定位在15q26.1。 (三) Bloom综合征的分子遗传学基础 ⒉ BLM基因产物及其生物学功能 ? BLM基因产物是RecQ DNA解链酶家族中的一员。 参与DNA复制与修复过程的多个环节。如稳定复制叉，去除诱导DNA重排的因素，以维持基因组的稳定性与完整性。 ⒊ BLM基因突变 ? BLM基因突变→RecQ DNA解链酶活性降低或缺乏，细胞表现为有丝分裂过程中的染色体重排增加，染色体错误分离率升高，对DNA诱变剂敏感，减数分裂异常等。 ? 目前已在10个Bloom综合征患者中发现了7种不同的BLM基因突变 碱基替换：4种 碱基缺失：2种 碱基插入：1种 错义突变：3种 无义突变：2种 移码突变：2种 导致 The end! * 目前已经知道，肿瘤的发生是一个复杂的多因素参与的过程，既有环境因素的作用，也有遗传因素的作用。 能导致肿瘤的环境因素是多种多样的，如化学致癌剂、放射性物质、病毒等病原微生物、某些疾病的慢性刺激及长期的不良饮食习惯等。 ①电离辐射和紫外线可致白血病和皮肤癌； ②黄曲霉素可诱发肝癌；③亚硝胺可引起各种消化道肿瘤。 * 体细胞突变仅发生于肿瘤中，而不存在于此个体的正常细胞中。因此肿瘤被认为是一种体细胞遗传病。 * * * Human polymorphisms Apart from sexual dimorphism, there are many other examples of human genetic polymorphisms. Infectious disease has been a major factor in human mortality, and so has affected the evolution of human populations. Evidence is now strong that many polymorphisms are maintained in human populations by balancing selection.[48][49] [edit] Human blood groups All the common blood types, such as the ABO system, are genetic polymorphisms. Here we see a system where there are more than two morphs: the phenotypes are A, B, AB and O are present in all human populations, but vary in proportion in different parts of the world. The phenotypes are controlled by multiple alleles at one locus. These polymorphisms are seemingly never eliminated by natural selection; the reason came from a study of disease statistics.Statistical research has shown that the various phenotypes are more, or less, likely to suffer a variety of diseases. For example, an individuals susceptibility to cholera (and other diarrheal infections) is correlated with their blood type: those with type O blood are the most susceptible, while those with type AB are the most resistant. Between these two extremes are the A an