• Mutation refers to any change in the genetic information

of an organism.

Chromosome
Gene mutation
mutation
基因突变
染色体突变
 染色体突变
• Chromosome mutation refers to either a change in the
number of chromosome or a change in the structure结
构 of chromosome.
Normal meiosis 46
chromosomes

Meiosis

23 23
chromosomes chromosomes
 Abnormal 不正常meiosis

46 chromosomes

Meiosis

24 chromosomes 22 chromosomes
(a) Down’s syndrome 唐氏综合征
- Extra one chromosome at 21st chromosome
- A Down’s syndrome person has 47
chromosomes
- Physically and mentally retarded智力迟钝的
- Has slanted eyes, flat nose and a fissured
tongue裂纹舌
(a) Down’s syndrome ( extra chromosome )
(b) Klinefelter’s syndrome 克兰费尔特综合征
- caused by an additional X chromosome in a
male ( XXY ).
- A Klinefelter’s syndrome individual is a male
with some female characteristics such as
enlarged breasts乳房扩大, narrow
shoulders窄的肩旁, wide hips 宽臀and little
body hair.
- His testis are small and infertile不能生殖的
(b) Klinefelter’s syndrome
(c) Turner’s syndrome特纳氏综合征
- A Turner’s syndrome person is a woman who
has only one X chromosome. ( X )

- A Turner’s syndrome female has no ovaries

- Fails to develop normal secondary sexual

characteristics and infertile不能生育.

- She is characteristically short, mentally

retarded and had fold褶皱/折叠 of skin on
her neck颈.
•Chromosome mutations can also be caused by a change
in the structure of chromosomes.
(a) Deletion
- A section of chromosome which breaks during
crossing-over does not join back to the chromosome.
- The resulting chromosome become short.
(b) Inversion
- A section of chromosome which breaks during
crossing-over turns 1800 and joins back to
chromosome.
(c) Duplication
- A section of chromosome duplicates itself.
(d) Translocation
- A section of chromosome which breaks during
crossing-over is joined to another chromosome
which is not homologous to it.
•A gene mutation refers to a change in the formation
within a gene.
(a) Colour blindness
- Inability of a person to differentiate colours.
- The gene for colour blindness is recessive and is
found in the chromosome X.
- Colour blindness is more common among male
than females.
(b) Albinism
- Albinism results when a gene mutation occurs that
interferes with melanin production.
- The mutated gene which causes albinism is recessive.
(c) Polydatylism多趾畸形
It causes an individual to have extra fingers
or toes on their hands and feet
May occur spontaneously 自发的( without any cause ).

Induced by external factors 外来因素

• Radioactive radiations 辐射
• Ultraviolet radiation 紫外辐射
• X-rays
• Toxic chemicals有毒化学品
 Organism生物体

Mutagent
Process:
Mutation

Mutant 突变体
 Advantages
• Adapt适应 better to changes改变 in the environment环
境.

• Increase variation不同 (differences) among individuals of

a species种类.

• Increase survival 生 存 of a species under changing

environment conditions.
Disadvantages

•Some chromosome and gene mutations cause genetic

diseases基因疾病.

•Haemophilia 血友病 is a disorder失调 in which blood is

unable to clot凝 at a wound伤口, causing excessive
bleeding大量失血.

•Causes physical deformity 畸 形 , for example,

polydactylism多趾畸形. It causes an individual to have
extra fingers or toes on their hands and feet.
1. Which of the following are mutations?
I A change in chromosome number
II A change in the structure of chromosome
III A change in the structure of a gene

A. I and II only
B. I and III only
C. II and III only
D. I, II and III
2. Down’s syndrome is caused by the presence of three
chromosomes number
A. 5
B. 9
C. 21
D. 23

3. Which of the following is found in a Klinefelter’s

syndrome male?
A. XY
B. XXY
C. XYY
D. XXYY
4. Which of the following statements are true about
polyploidy?
I An increase of chromosome
II It is a kind of mutation
III It causes a change in the characteristics of the
organisms

A. I and II only
B. I and III only
C. II and III only
D. I, II and III
5. Albinism is caused by
A. a gene mutation
B. a change in the number of chromosome
C. a loss of one section of a chromosome
D. an inversion of one section of a chromosome

6. Which of the following are caused by mutations?

I Down’s syndrome
II Colour-blindness
III AIDS
A. I and II only
B. I and III only
C. II and III only
D. I, II and III