最新动物遗传学遗传信息的改变幻灯片.ppt
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1、动物遗传学遗传信息的改变动物遗传学遗传信息的改变 变异是生物界存在的一种普遍现象,变异可以使生物具有多样性,使生物通过自然选择产生进化,影响生物的性状。 遗传信息的改变可以发生在染色体上,也可以发生在DNA分子水平上。染色体结构和数目的改变称为染色体畸变(chromosomal aberration)。DNA分子结构发生的化学变化称为基因突变(gene mutation)。3 缺失的细胞学特征缺失的细胞学特征玉米缺失杂合体粗线期缺失环玉米缺失杂合体粗线期缺失环果蝇唾腺染色体的缺失圈果蝇唾腺染色体的缺失圈3 3 缺失的遗传与表型效应缺失的遗传与表型效应致死或出现异常致死或出现异常假显性或拟显性假
2、显性或拟显性假显性或拟显性(假显性或拟显性(psedo dominantpsedo dominant):是指显性基因的):是指显性基因的缺失使其同源染色体上的隐性非致死基因的效应得以显缺失使其同源染色体上的隐性非致死基因的效应得以显现的遗传现象。现的遗传现象。Williams Syndrome is caused by a very small chromosomal deletion on the long arm of chromosome 7. The deleted region includes the elastin gene, which encodes a protein th
3、at gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryo development and childhood, when blood vessels are formed. Because they lack the elastin protein, people with Williams Syndrome have disorders of the circulator
4、y system, also known as vascular disorders. Cri du chat is a rare syndrome (1 in 50,000 live births) caused by a deletion on the short arm of chromosome 5. The name of this syndrome is French for cry of the cat, referring to the distinctive cry of children with this disorder. The cry is caused by ab
5、normal larynx development, which becomes normal within a few weeks of birth. Infants with cri du chat have low birth weight and may have respiratory problems. Some people with this disorder have a shortened lifespan, but most have a normal life expectancy.Where does the abnormal chromosome 5 come fr
6、om? In 80 percent of the cases, the chromosome carrying the deletion comes from the fathers sperm.Cri du chat syndrome重复重复(duplication)(duplication):是指一个正常染色体增加了与本身:是指一个正常染色体增加了与本身相同的一段。相同的一段。二、重复二、重复1 重复的类型 1 2 3 4 5 6 1 2 3 4 3 4 5 6 顺接重复 1 2 3 4 4 3 5 6 反接重复 1 3 4 2 3 4 5 6 异臂重复 1 2 3 4 a b 5 6 移
7、位重复 图22- 重复的类型 2 重复的细胞学特征 染色体断裂染色体断裂- -融合桥的形成融合桥的形成 染色体纽结和重接染色体纽结和重接 不等交换不等交换3 3 重复的产生重复的产生 剂量效应:剂量效应:4 重复的遗传与表型效应重复的遗传与表型效应 表型异常表型异常 破坏连锁群破坏连锁群倒位(倒位(inversion):是指一个染色体上某区段的正):是指一个染色体上某区段的正常排列顺序发生了常排列顺序发生了180度的颠倒。度的颠倒。三、倒位1 倒位的类型倒位的类型A 臂内倒位(pericentric inversion)B 臂间倒位 (paracentric inversion) 染色体纽结和
8、重接染色体纽结和重接 转座转座2 2 倒位的产生倒位的产生3 倒位杂合体细胞学效应3 3 倒位的遗传与表型效应倒位的遗传与表型效应引起基因重排。引起基因重排。改变基因的连锁群,影响重组频率。改变基因的连锁群,影响重组频率。繁殖力下降。繁殖力下降。新物种的形成。新物种的形成。易位(易位(translocation):是指非同源染色体间染色体片):是指非同源染色体间染色体片段的转移,主要包括相互易位(段的转移,主要包括相互易位(reciprocal translocation)、单向易位)、单向易位(simple translocation)和罗和罗伯逊易位伯逊易位(Robertsonian tr
9、anslocation)。四、易位四、易位reciprocal translocationRobertsonian translocationsimple translocation1 易位的分类易位的分类2 易位的产生易位的产生断裂非重建性愈合断裂非重建性愈合 转座转座Robertsonian translocationreciprocal translocation3 易位杂合体的联会和分离易位杂合体的联会和分离 基因重排导致癌基因的活化,产生肿瘤基因重排导致癌基因的活化,产生肿瘤 假连锁现象假连锁现象 位置效应位置效应 改变正常的连锁群改变正常的连锁群 降低繁殖机能和生产性能降低繁殖机能
10、和生产性能4 易位的遗传与表型效应易位的遗传与表型效应Philadelphia Chromosome This person has 46 chromosomes with a translocation of material between chromosome 9 and chromosome 22 (commonly known as the Philadelphia chromosome). Detailed studies of the Philadelphia chromosome show that most of chromosome 22 has been transloc
11、ated onto the long arm of chromosome 9. In addition, the small distal portion of the short arm of chromosome 9 is translocated to chromosome 22. This translocation, which is found only in tumor cells, indicates that a patient has chronic myelogenous leukemia (CML). In CML, the cells that produce blo
12、od cells for the body (the hematopoietic cells) grow uncontrollably, leading to cancer. The connection between this chromosomal abnormality and CML was clarified by studying the genes located on the chromosomes at the sites of the translocation breakpoints. In one of the translocated chromosomes, pa
13、rt of a gene called abl is moved from its normal location on chromosome 9 to a new location on chromosome 22. This breakage and reattachment leads to an altered abl gene. The protein produced from the mutant abl gene functions improperly, leading to CML.小结1 1 掌握染色体畸变的概念。掌握染色体畸变的概念。2 2 掌握染色体结构畸变的种类、产
14、生机制及掌握染色体结构畸变的种类、产生机制及 细胞遗传学效应。细胞遗传学效应。染色体数目的变异染色体数目的变异染色体数目的变异:是指染色体数目发生不正常的染色体数目的变异:是指染色体数目发生不正常的改变,包括整倍体的变异和非整倍体的变异。改变,包括整倍体的变异和非整倍体的变异。一个染色体组:就是每一种同源染色体之一所构成的一套染色体,即二倍体生物配子中含有的全套染色体。一倍体一倍体(monoploid):是指含有一个染色体组的细胞或生物。:是指含有一个染色体组的细胞或生物。二倍体二倍体(diploid):是指含有两个染色体组的细胞或生物。:是指含有两个染色体组的细胞或生物。一、整倍体(eupl
15、oid)的变异整倍体的变异是指细胞中整套染色体的增加或减少。1 一倍体和单倍体单倍体单倍体(haploid):是指含有配子染色体数的生物,它具有正:是指含有配子染色体数的生物,它具有正 常体细胞染色体数的一半。常体细胞染色体数的一半。整倍体是指含有完整染色体组的细胞或生物。在自然条件下,由未受精的卵细胞直接发育而来的。单倍体的来源在人为条件下,采用花药离体培养也能得到。一种是体细胞在进行有丝分裂时,染色体已经复制了,着丝点分裂了,但细胞没有分裂,造成细胞内染色体数目的增加。多倍体的自然形成 另一种是受精卵在分裂时,遇到特殊环境,会使整套染色体数目加倍。2 2 多倍体多倍体多倍体(ployplo
16、id):是指具有两个以上染色体组的细胞或生物统称为多倍体,可分为同源多倍体和异源多倍体 。贝类的精子在排放前已完成了减数分裂过程,而卵子尤其是双壳贝类的卵子排放时,一般停止在第一次减数分裂的前期或中期,只有在受精后或经精子激活后,才释放第二极体,完成减数分裂.利用四倍体与二倍体杂交产生三倍体抑制受精卵第二极体的释放。二、非整倍体的变异二、非整倍体的变异非整倍体:是指细胞中含有不完整的染色体组的生物。非整倍体:是指细胞中含有不完整的染色体组的生物。缺体(nullsomy):是指有一对同源染色体成员全部丢失,也称为零体(2n-2) 。单体(monosomy):是指二倍体染色体组中丢失一条染色体的生
17、物个体(2n-1)。多体(ploysomy):是指二倍体染色体组增加了一个或多个染色体的生物个体的通称。根据染色体增加的多少不同可分为三体、双三体和四体等。三体(trisomy):是指二倍体染色体组增加了某一条染色体的生物个体的通称(2n+1)。双三体(double trisomy):是指二倍体染色体组增加了两条不同的染色体的生物个体的通称(2n+1+1)。双三体(tetrasomy):是指二倍体染色体组增加了两条相同的染色体的生物个体的通称(2n+2)。Turner Syndrome affects 60,000 girls and women in the United States. T
18、his disorder occurs in 1 in 2000 to 1 in 2500 live births, with about 800 new cases diagnosed each year. Girls with Turner Syndrome do not develop secondary sex characteristics such as breast tissue and underarm or pubic hair. Women and girls with Turner Syndrome have only one X chromosome. This is
19、an example of monosomy.Down Syndrome is a genetic disorder caused by extra genetic material. It affects over 350,000 people in the United States alone and is the most common (1 in 800 live births) imbalance in the number of autosomes in people. The effects of Down Syndrome vary greatly from person t
20、o person but can include mental retardation, eyes that slant upward, and heart defects. People with Down Syndrome have 3 copies of chromosome 21. For this reason, Down Syndrome is also called Trisomy 21.Klinefelter Syndrome occurs in 1 in 500 to 1 in 1000 live births. People with this disorder devel
21、op as males with subtle characteristics that become apparent during puberty. They are often tall and usually do not develop secondary sex characteristics .三、嵌合体嵌合体动物(Chimeras):是指由两种或两种以上具有不同遗传性的细胞系组成的聚合胚发育成的个体, 例如XX/XY、XO/XY和XO/XYY。双生间雌(free martin)是指在异性双生中雌性个体呈现间性(或称雄性化个体)的一种性别变异现象。双生间雌牛的双生间雌现象五、染色
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