1. Chapter 10 Inheritance analysis of chromosome aberration
Variation in chromosome structure
Deletions
Duplication
Inversions
Translocations
Variation in chromosome number
Euploid
Aneuploid

2. 第十章 染色体畸变的遗传分析
染色体结构变异 缺失 重复 倒位 易位
染色体数目的变异
整倍体
非整倍体

3. Characteristics of Drosophila salivary gland chromosomes 果蝇唾腺染色体特性
Magnitude and extensibility
Somatic synapsis
Band and interband
Puff Structure
巨大性和伸展性
体联会
横纹结构
Puff结构

4. Variation in chromosome structure—deletions 染色体结构变异--缺失
Deficiencies
The loss of a segment from a normal chromosome
The types of deficiencies
Intercalary (deletion) and terminal
染色体丢失了一个片段叫缺失
缺失类型:
中间缺失
末端缺失

5. Formation of Terminal deletion 末端缺失的形成

6. Formation of intercalary deletion 中间缺失的形成

7. Cytological behavior 细胞学效应
A loop is generally observed if the deficiency is long enough and is located an interstitial region
普遍生成一个缺失环

8. Chromosomal synapsis of deficiency 缺失染色体联会

9. Deletion loop of Drosophila salivary gland chromosome 果蝇唾腺染色体的缺失环

10. Genetic effect of deletion heterozygote 缺失杂合子的遗传学效应
Pseudodominant
Lethal effect
Formation of ring chromosome and breakage-fusion-bridge cycle
假显性
致死效应
形成环状染色体和断裂融合桥循环

11. Pseudodominant effect of deletion heterozygote 缺失杂合子的假显性效应

12. Example of deletion in human--Cri-du-Chat Syndrome 人类缺失实例--猫叫综合症

13. The karyotype of Cri-du-Chat Syndrome 猫叫综合症的核型

14. Variation in chromosome structure--duplications An extra piece of chromosome segment either attached to the same homologous chromosome or transposed to one of the non-homologous members of the genome 重复：一个染色体上的某一片段出现两份或两份以上的现象

15. Types of duplications 重复的种类
Tandem duplication--串联重复
Reverse tandem duplication--反向串联重复

16. Formation of duplication 重复的形成

17. Non-equal cross-over of homogenous chromosome同源染色体的不等交换

18. Cytological behavior of duplication heterozygote 重复杂合体的细胞学行为
Duplication loop
重复环

19. Genetic effect of duplication heterozygote 重复杂合子的遗传效应
Dosage effect
Position effect
Lethal effect
剂量效应
位置效应
致死效应

20. The Bar mutation in Drosophila 果蝇的棒眼突变

21. The duplication at 16A of X chromosome in Drosophila 果蝇X染色体在16A的重复

22. Position effect 位置效应

23. Variation in chromosome structure-- inversions
A change in linear sequence of the genes in a chromosome which results in the reverse order of genes in a chromosome segment
倒位：染色体上某一片段发生颠倒，造成染色体上基因顺序重排的现象

24. Types of inversions--倒位的种类
Based on the position of two breaks of an inversion in relation to the
kinetochore of a chromosome, inversion are of two types:
Paracentric inversion：both breaks occur in the same arm so the
inverted region does not include a kinetochore.
Pericentric inversion：the two breaks occur in opposite arms of a chromosome. Dicentric bridges and acentric fragments at anaphase-I and –II are not observed in pericentric inversion
臂内倒位：倒位出现在同一臂内，因此倒位不包括着丝粒
臂间倒位：倒位发生在一条染色体的两条臂上

25. Formation of inversion--倒位的形成

26. Cytological behavior--pericentric inversion 细胞学行为--臂间倒位
A loop is usually observed in a heterozygous inversion at pachynema
在粗线期，倒位杂合子会出现一个倒位环

27. Cytological behavior--paracentric inversion 细胞学行为--臂内倒位
At pachynema, a loop is usually observed in a heterozygous inversion
At anaphase-I or –II, chromatin bridge and acentric fragment may be found
在粗线期，倒位杂合子会出现一个倒位环
在后期 I或Ⅱ，可能出现染色体桥梁和无着丝粒片段

28. Association of inversion heterozygote 倒位杂合子的联会

29. Cross-over of pericentric inversion heterozygotes 臂间倒位杂合子的交换

30. Cross-over of paracentric inversion heterozygotes 臂内倒位杂合子的交换

31. Genetic effect and application 遗传效应及应用
1. Changing the linear order of genes in chromosome
2. Influencing the organism evolution
3. The karyotype is varied in pericentric inversion
4. Breakage point can be used a dominant suppressed factor to locate genes in chromosome: crossover repressor to construct balanced lethal system—permanent hybrid
改变基因在染色体上线性排列
影响生物进化
臂间倒位可改变细胞染色体核型
断裂点可用作显性抑制因子对染色体上的基因定位

32. Genetic effect and application

33. Variation in chromosome structure-- translocations
The movement of a chromosomal segment to a new location in the genome
易位是一个染色体片段转移到基因组中新的位置

34. Types of translocation 易位类型
Reciprocal translocation: Involveing the exchange of segments between two non-homologous chromosomes
Whole-arm translocation
Robertsonian translocation
相互易位：是发生在两个非同源染色体之间的交换。
整臂易位
罗伯逊式易位

35. Origin of translocation 易位的来源

36. Cytological behavior 细胞学行为
At pachynema in meiosis, translocation heterozygote chromosomes form a cross-shaped configuration
在减数分裂粗线期，染色体易位杂合子形成十字型配置

37. Synapsis and separation of translocation heterozygotes 易位杂合体的联会与分离

38. Separation of translocation heterozygotes 易位杂合体的分离

39. Genetic effect and application 遗传效应及应用
Semi-sterility in diploid species
Constructing new karyotypes or linkage groups, resulting in evolution of
organism. For example: the evolution of rye
Using translocation-gene-linkage technique to gene location
Preventing injurious insects
Using B-A translocations to study gene effects or gene location or relationship among linkage groups
二倍体物种的半不育
构建新的染色体核型或连锁群，促时进生物进化。例如：黑麦的演变
使用连锁-易位基因技术对基因定位
害虫防治
采用易位方法，研究基因效应或定位基因或研究连锁群之间的关系

40. Application in agricultural production
Using translocation technology to construct the autosexing strain in silkworm

41. Translocation in humans: Familial Down Syndrome 人类的易位--唐氏综合症家族

42. Variation in chromosome number 染色体数目的变异
The type of chromosome number variation
Euploid
Aneuploid
Genome: The basic set of chromosomes in a gamete of diploid organism is called genome, designed as ‘x’
染色体数目变异的类型 ：
整倍体
非整倍体
基因组： 二倍体生物正常配子中所包含的整套染色体

43. Euploid--整倍体 整倍体：以染色体组为单位，呈成套数目的改变，改变后的数目是整倍改变 单倍体, x 2n=x
Euploid: the organisms those contain only complete haploid sets of chromosome
Monoploid, x 2n=x
Diploid, 2x 2n=2x n=x
Tripoid, 3x 2n=3x
Tetraploid, 4x 2n=4x n=2x
For example
Maize： diploid(2n=2x=20, n=x=10)
Rice： diploid(2n=2x=24, n=x=12)
Wheat：sixploid(2n=6x=42, n=3x=21, x=7)
整倍体：以染色体组为单位，呈成套数目的改变，改变后的数目是整倍改变
单倍体, x 2n=x
二倍体, 2x 2n=2x n=x
三倍体, 3x 2n=3x
四倍体, 4x 2n=4x n=2x
例如：
玉米 ： diploid(2n=2x=20, n=x=10)
水稻 ： diploid(2n=2x=24, n=x=12)
小麦： sixploid(2n=6x=42, n=3x=21, x=7)

44. Application in heredity and breeding 单倍体在遗传育种研究的应用
Haploid--单倍体
the organisms contain only a set of chromosomes in a cell, which exhibit the smaller cells, tissues, organs, individuals, and sterility to a degree
The haploid (n = 2x) of autotetraploid (2n = 4x) shows a higher fertility
细胞、组织、器官和生物个体较小，高度不育性
同源四倍体(2n=4x)的单倍体(n=2x)育性水平高于其它类型
Application in heredity and breeding 单倍体在遗传育种研究的应用
To enhance selection efficiency and speed up the process in plant breeding
A key material in genetic research
To analyze the homologous relationship between chromosome groups
提高育种的选择效率、加速育种进程
是良好的遗传研究材料
用以分析染色体组间同源关系

45. Polyploid The organisms contain more than two sets of chromosomes
Autopolyploidy: The genomes are alike because one basic genome is multiplied. Most of the autopolyploidy in nature are autotriploids and autotetraploids.
Alloployploidy: The organisms which have the combination of chromosome sets from different species occurring as a consequence of hybridization
同源多倍体：染色体是相同的，因为一个基本的染色体是成倍增加。自然界中的大多数是同源多倍体同源三倍体和同源四倍体
异源多倍体：是两个或两个以上不同物种杂交，它们的杂种经染色体加倍形成

46. Origin of autotetraploids—同源多倍体的来源
1. Occasionally appearing spontaneously in natural diploid population by non-disjunction
2. Deriving from the progenies of twin seedlings and male sterile
3. Induced from temperature shocks, cell and tissue cultures, irradiations and chemicals (colchicines)

47. Meiosis and gene segregation of Autopolyploids 同源多倍体的减数分裂 和基因分裂特点

48. Autotriploids--同源三倍体
Autotriploids (3x, AAA): An individual possessing three basic sets of homologous chromosomes
具有3个基本同源染色体组
Phenotype of autotriploids
More vigorous vegetative growth, profuse tillering, gigantic phenotype and high ovule abortion
表型：营养生长旺盛，大量分蘖，巨大表型，高雌配子败育率
Cytological behavior
细胞学行为

49. Morphological characteristics of autotetraploid 同源四倍体的形态特征
Slowing in growth
Exhibiting dark green, large leaves
Reducing the number of tillers
增长缓慢
叶深绿色而大
减少分蘖数

50. Amphidiploid--双二倍体
the allotetraploid that contain the equivalent of genomes derived from two separate species
双二倍体：是来源于两个不同物种的染色体组杂交形成

51. Amphidiploid—cotton 双二倍体棉花

52. The origin of tobacco (N. tabacum) 烟草的起源（普通烟草）

53. The origin of wheat (T. aestivum) 小麦的起源（普通小麦）

54. Aneuploidy--the origin: nondisjunction 非整倍体—染色体不分离
Aneuploidy is the organisms gain or lose one or more chromosomes
Aneuploidy originates as the result of an error during meiosis
非整倍体是生物体获得或失去一个或多个染色体
非整倍体起源是减数分裂过程出现错误的结果

55. Aneuploidy and euploidy

56. Types of aneuploid 非整倍体 的类型
Trisomic(三体): n+1
Monosomic (单体): n-1
double trisomic (双三体): n+1+1
double monosomic (双单体): 2n-1-1
tetrasomic (四体): n+2
nullisomic (缺体): n-2

57. Random chromosome segregation (AAa) 染色体随机分离

58. Gene chromosomal location 基因的染色体定位
Gene chromosomal location with trisomy
Segregation ratio of self crossing F2
= 3 domianat:1 recessive
Phenotype ratio of test crossing offspring
= 1 dominant:1 recessive
Trisomy
Segregation ratio of self crossing F2 ≠ 3 domianat:1 recessive
Phenotype ratio of test crossing offspring ≠ 1 dominant:1 recessive

59. The karyotype of Down syndrome individual

60. Section 3 Changes in genetic material-- gene mutation 遗传物质的改变--基因突变
Gene mutation: The genetic variation at the level of the gene results in the change of alleles, which is also called the point mutation with a single base alteration
基因突变：基因内部所发生的从一种等位形式改变为另一种等位形式的变化，又称基因的点突变（DNA单个碱基所发生的替换、缺失所引起的突变）

61. Classification of point mutations 点突变的类型
1. Base substution
A pair of bases substute for a pair of other bases
1) Transition: A substution between the same category of base; that is pyrimidine versus pyrimidine or purine versus purine
2) Transversion: A substution between the different category of base; that is pyrimidine versus purine
2. Base instertion and deletion
The point mutation is due to a pair of bases inserting into or deleting from DNA
一、碱基替换：一对碱基替换另一对碱基所造成的突变
1. 转换：同类碱基间的替换
2. 颠换：不同类碱基间的替换
二、碱基的增加及缺失

62. The molecular basis of mutaiton 突变的分子效应
Mutation in coding region
1. Synonymous mutation: Silent mutation, a codon mutates another codon for the same amino acid
2. Missense mutation: A amino acid codon mutates another amimo acid codon
3. Nonsense mutation: A amino acid code mutates a stop codon, leading to the activity loss of a polypeptide
4. Frameshift mutation: The alteration of the whole DNA sequence from mutation to the stop condon is due to the insertion or deletion of a base or a few
Mutation in non-coding region
Point mutations often occur in the site binding regulatory protein
发生在基因编码区的突变
一、同义突变
二、错义突变
三、无义突变
四、移码突变
发生在基因非编码区的突变

63. The pattern of mutation at the level of DNA

64. The effect of the mutation on the organism 突变对生物的影响
Loss of function mutation: A mutation results in the reduction or loss of the protein activity
Gain of function mutation: A mutation increases the activity of a protein and may confer novel phenotypes to a protein
Reverse mutation: Back mutation, mutations either restore the original DNA sequence or alter other loci to gain functional compensation
功能丧失性突变：突变结果造成蛋白质活性下降或丧失
获得功能突变：突变结果造成蛋白质活性增加，或获得新性状
回复突变：突变通过重建设原DNA序列或在基因其他位点获得补偿

65. The induced mutation mechnism of point mutation 点突变的诱变机制
Mutations are produced by various mutagen
1. Base analogue
5-bromouracil(5-BU), 2-aminopurine(2-AP)
2. Base alteration
Alkylating agents, intercalating agents
3. Base damge
Ultraviolet light, aflatoxin B1
4. Site specific mutagenesis
Spontaneous mutation
Those that just happen in nature, no specific agents are associated with their occurrence. They often result from spontaneous DNA lesions, oxidative base lesions, errs in DNA copy and or so
诱发突变：碱基类似物、碱基改变、碱基损伤和位点专一性突变
自发突变