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医学遗传学-遗传与肿瘤重点整理

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医学遗传学-遗传与肿瘤重点整理医学遗传学-遗传与肿瘤重点整理 1,掌握肿瘤发生与遗传因素相关的四大证据。 1、种族差异 日本人松果体瘤发病率比其他民族高十几倍。 80%的鼻咽癌发生在中国,比印度人高30倍;比日本人高60倍。而在中国,广东人发病最高。 欧美人的乳腺癌发病高于日本人和中国人。 肿瘤的发病率并不因为移民而发生显著变化 2、家族聚集 癌家族—家系中肿瘤的发病高于群体,且发病年龄早,部分肿瘤表现孟德尔式遗传。 家族性癌—家族内多个成员患同一种肿瘤。如结肠癌病人有12%-25%有家族史,因此结肠癌可认为是家族性癌。 家...

医学遗传学-遗传与肿瘤重点整理
医学遗传学-遗传与肿瘤重点整理 1,掌握肿瘤发生与遗传因素相关的四大证据。 1、种族差异 日本人松果体瘤发病率比其他民族高十几倍。 80%的鼻咽癌发生在中国,比印度人高30倍;比日本人高60倍。而在中国,广东人发病最高。 欧美人的乳腺癌发病高于日本人和中国人。 肿瘤的发病率并不因为移民而发生显著变化 2、家族聚集 癌家族—家系中肿瘤的发病高于群体,且发病年龄早,部分肿瘤表现孟德尔式遗传。 家族性癌—家族内多个成员患同一种肿瘤。如结肠癌病人有12%-25%有家族史,因此结肠癌可认为是家族性癌。 家族性大多不表现孟德尔式遗传,但患者的一级亲属的发病风险高于人群3-5倍。 双生子调查中发现,同卵双生发病的一致率非常高。 3、遗传性肿瘤(单基因遗传的肿瘤) P.256 少数肿瘤表现孟德尔式遗传,如视网膜母细胞瘤(AD),神经母细胞瘤(AD),神经纤维瘤(AD),Wilms瘤(AD)等。 4、遗传缺陷、染色体畸变与肿瘤 研究发现,具有某些遗传缺陷的病人,其肿瘤的发病率比群体发病高。如克氏征者易患男性乳腺癌,21三体者白血病的发病率高于群体20倍,共济失调性毛细血管扩张症者易患各种肿瘤。 肿瘤组织染色体检查发现了大量染色体异常,包括断裂、重排、双着丝粒、环形等。 2. 掌握以Ph染色体为例,讲解肿瘤发生与染色体变异的 关系。 95%慢性粒细胞性白血病(CML)细胞中存在Ph染色体(费城染色体) 。为9号染色体与22号染色体易位后重组的22号染色体。 Ph染色体首次 证明 住所证明下载场所使用证明下载诊断证明下载住所证明下载爱问住所证明下载爱问 了一种染色体畸变与一种特异性肿瘤的恒定关系。Ph染色体是慢性粒细胞性白血病典型的特异性标记染色体。 Ph染色体致病的分子 机制 综治信访维稳工作机制反恐怖工作机制企业员工晋升机制公司员工晋升机制员工晋升机制图 : 9号染色体上有一个c-abl基因(原癌基因),产生一145kD的多肽,22号染色体上有一个bcr基因(断裂点集中区) ,易位后在22号染色体上形成一融合基因,产生一210kD的融合多肽。 electricity at no cost, revenue from electricity sales. Poverty alleviation to the removal, to desperate farmers out of poverty, in conjunction with urbanization, new communities are centrally placed. Poverty in the enterprise, enterprise more powerful, more social responsibility, they should allow more people to enjoy the fruits of development. Conditions to encourage private enterprises to establish Charity Fund for poverty alleviation, employment, grants, financial aid and other forms of poverty alleviation activities, let poverty alleviation aid corporate social responsibility in the specific embodiment, the proper meaning of giving back to the community. Finally reveals to implement poverty alleviation policies, older age, incapacity, cannot be achieved through industry support and employment support, such as poverty, children and unable to support the poor, Lo-Fi policy reveals the role to play, eventually incorporated into the low range, and fundamentally solve the problem of poverty. (C) establishing and perfecting retreat mechanism. Poverty alleviation is a dynamic project, we must strengthen the farmers ' information management, dynamic management of poor, really "poor" no place to hide, "poverty" a timely exit, "poor" and "return to the poor" get maximum support and help. To build up the information network system of the poor, poverty the basic information and dynamic entry to the system, to implement dynamic management. According to pro-poor development, timely adjustment on 3,了解其他染色体变异与肿瘤。 Burkett淋巴瘤— t(8;14)(q24;q32) 1.8q24:c-MYC 2.14q32:免疫球蛋白重链基因复合体(IgH),有强大的增强子,在B细胞中活跃表达。 3.C-MYC与IgH相邻后,转录和翻译也增强,从而导致恶性转化。 染色体缺失 肺癌中的del(3)(p14p23) 视网膜细胞瘤中的del(13) (p14) Wilms瘤中的del(11) (p13p14)等则可导致相应位置上的抑癌基因RARA、PTPG、RB、WT1丢失 4,掌握干系,旁系,众数,标记染色体等概念 在一个肿瘤的 细胞群体中,如果某种细胞系生长占优势,此细胞系就称为该肿瘤的干系。干系的染色体数目称为众数。 除干系以外的处于劣势的其他核型的细胞称为旁系。 标记染色体:如果某一肿瘤的大部分细胞中某种特定类型的畸变染色体,这种畸变染色体则称为标记染色体。 5. 掌握病毒癌基因,原癌基因,癌基因分类和癌基因激活的主要4条途径。 存在于肿瘤病毒基因组中的癌基因称为病毒癌基因。 存在于正常人类基因组中的癌基因称为细胞癌基因。即原癌基因。 癌基因激活的四条途径: 1.点突变 2.病毒诱导与启动子插入 3.基因扩增 4.染色体断裂与重排 electricity at no cost, revenue from electricity sales. Poverty alleviation to the removal, to desperate farmers out of poverty, in conjunction with urbanization, new communities are centrally placed. Poverty in the enterprise, enterprise more powerful, more social responsibility, they should allow more people to enjoy the fruits of development. Conditions to encourage private enterprises to establish Charity Fund for poverty alleviation, employment, grants, financial aid and other forms of poverty alleviation activities, let poverty alleviation aid corporate social responsibility in the specific embodiment, the proper meaning of giving back to the community. Finally reveals to implement poverty alleviation policies, older age, incapacity, cannot be achieved through industry support and employment support, such as poverty, children and unable to support the poor, Lo-Fi policy reveals the role to play, eventually incorporated into the low range, and fundamentally solve the problem of poverty. (C) establishing and perfecting retreat mechanism. Poverty alleviation is a dynamic project, we must strengthen the farmers ' information management, dynamic management of poor, really "poor" no place to hide, "poverty" a timely exit, "poor" and "return to the poor" get maximum support and help. To build up the information network system of the poor, poverty the basic information and dynamic entry to the system, to implement dynamic management. According to pro-poor development, timely adjustment on 6. 掌握肿瘤抑制基因的概念和与癌基因的区别。 肿瘤抑制基因(定义):对细胞的异常生长和恶性转化起抑制作用的基因。 癌基因:能引起细胞恶性转化的基因,称为癌基因。 7,了解P53基因和Rb基因 1、Rb基因 Rb基因名称来自Retinoblastoma,视网膜母细胞瘤. Rb基因位于13q14.1,27个外显子,编码928个氨基酸的110kD蛋白质。 30%的视网膜母细胞瘤中可见包括Rb基因在内的DNA缺失,甚至染色体片段的缺失。 (1).视网膜母细胞瘤患者有13号染色体长臂缺失,但不同患者缺失的13号染色体片段大小是不同的,他们之间共同的最小重叠区是13q14,这揭示RB基因位于13q14. (2)RB基因编码的 Rb蛋白 (3).RB蛋白质去磷酸化时,与细胞内转录因子E2F结合,使细胞停止转录,细胞不能越过G1期控制点,所以不能进入S期,不能进行增殖。 (4).RB蛋白质磷酸化,它就与E2F分离,E2F就促进细胞的转录,促使细胞由G1越过electricity at no cost, revenue from electricity sales. Poverty alleviation to the removal, to desperate farmers out of poverty, in conjunction with urbanization, new communities are centrally placed. Poverty in the enterprise, enterprise more powerful, more social responsibility, they should allow more people to enjoy the fruits of development. Conditions to encourage private enterprises to establish Charity Fund for poverty alleviation, employment, grants, financial aid and other forms of poverty alleviation activities, let poverty alleviation aid corporate social responsibility in the specific embodiment, the proper meaning of giving back to the community. Finally reveals to implement poverty alleviation policies, older age, incapacity, cannot be achieved through industry support and employment support, such as poverty, children and unable to support the poor, Lo-Fi policy reveals the role to play, eventually incorporated into the low range, and fundamentally solve the problem of poverty. (C) establishing and perfecting retreat mechanism. Poverty alleviation is a dynamic project, we must strengthen the farmers ' information management, dynamic management of poor, really "poor" no place to hide, "poverty" a timely exit, "poor" and "return to the poor" get maximum support and help. To build up the information network system of the poor, poverty the basic information and dynamic entry to the system, to implement dynamic management. According to pro-poor development, timely adjustment on 控制点而进入S期,细胞进行增殖。 2、P53基因 P53基因定位于17p13.1,含11个外显子,编码53kD蛋白,393个氨基酸。 P53基因的变异与50%的肿瘤发生相关。 P53基因的4个功能区: 1)N-端调控活性区—行使功能的区域,既介导蛋白质相互作用的区域,由73个氨基酸构成。 2)序列特异性结合区—核心区,具有特异性DNA结合功能,此区域含有大量的突变热点。 3)寡聚区—介导P53蛋白自身形成4聚体。 4)C-端DNA非特异性结合区 P53为核内磷酸化蛋白,作为转录因子调控其他蛋白的活性,达到细胞周期和细胞凋亡的控制。P53蛋白的失活导致细胞保护功能的丧失而导致细胞周期的紊乱。 8,了解肿瘤发生的单克隆起源学说、二次突变论和多步骤遗传损伤学说。 1、单克隆起源学说: 肿瘤细胞群体来自单一细胞的克隆。 最初一个关键基因或一系列事件导致某一细胞向肿瘤方向转化,形成不可控制的细胞增殖, 最后形成肿瘤。 学说的证实: 1、女性G6PD基因在肿瘤中表现出均失活或均不失活。 2、同一肿瘤所有细胞具有相同的标记染色体。 2、二次突变论学说: 细胞必须发生两次突变才能形成肿瘤。遗传性肿瘤的第一次突变发生在生殖细胞内,并遗传给后代,后代体细胞又一次发生突变,使细胞转化。 学说的证实:遗传性视网膜母细胞瘤 散发性视网膜母细胞瘤 二次突变论在其他肿瘤的研究中也得到证实。 3、多步骤遗传损伤学说: electricity at no cost, revenue from electricity sales. Poverty alleviation to the removal, to desperate farmers out of poverty, in conjunction with urbanization, new communities are centrally placed. Poverty in the enterprise, enterprise more powerful, more social responsibility, they should allow more people to enjoy the fruits of development. Conditions to encourage private enterprises to establish Charity Fund for poverty alleviation, employment, grants, financial aid and other forms of poverty alleviation activities, let poverty alleviation aid corporate social responsibility in the specific embodiment, the proper meaning of giving back to the community. Finally reveals to implement poverty alleviation policies, older age, incapacity, cannot be achieved through industry support and employment support, such as poverty, children and unable to support the poor, Lo-Fi policy reveals the role to play, eventually incorporated into the low range, and fundamentally solve the problem of poverty. (C) establishing and perfecting retreat mechanism. Poverty alleviation is a dynamic project, we must strengthen the farmers ' information management, dynamic management of poor, really "poor" no place to hide, "poverty" a timely exit, "poor" and "return to the poor" get maximum support and help. To build up the information network system of the poor, poverty the basic information and dynamic entry to the system, to implement dynamic management. According to pro-poor development, timely adjustment on 细胞癌变需要多个肿瘤相关基因的协同作用,须经过多阶段的演变,这些基因的激活/ 失活在时间上有先后顺序,在空间位置上有一定配合。 肿瘤的起始阶段——原癌基因激活(逆转录病毒的插入和原癌基因的点突变)。 肿瘤的演进阶段——染色体重排、基因重组、基因扩增。 electricity at no cost, revenue from electricity sales. Poverty alleviation to the removal, to desperate farmers out of poverty, in conjunction with urbanization, new communities are centrally placed. Poverty in the enterprise, enterprise more powerful, more social responsibility, they should allow more people to enjoy the fruits of development. Conditions to encourage private enterprises to establish Charity Fund for poverty alleviation, employment, grants, financial aid and other forms of poverty alleviation activities, let poverty alleviation aid corporate social responsibility in the specific embodiment, the proper meaning of giving back to the community. Finally reveals to implement poverty alleviation policies, older age, incapacity, cannot be achieved through industry support and employment support, such as poverty, children and unable to support the poor, Lo-Fi policy reveals the role to play, eventually incorporated into the low range, and fundamentally solve the problem of poverty. (C) establishing and perfecting retreat mechanism. Poverty alleviation is a dynamic project, we must strengthen the farmers ' information management, dynamic management of poor, really "poor" no place to hide, "poverty" a timely exit, "poor" and "return to the poor" get maximum support and help. To build up the information network system of the poor, poverty the basic information and dynamic entry to the system, to implement dynamic management. According to pro-poor development, timely adjustment on
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