2.what are the four different types of chromosome mutations? · pdf filegene and a chromosome...

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Bell Work: Turn in HW. Finish chromosome mutation activity. If you’re done, answer the following questions:

1.What is the difference between a gene and a chromosome mutation?

2.What are the four different types of chromosome mutations?

3.What is a karyotype?

Tuesday, January 15, 2013

Bell Work: Turn in HW. Finish chromosome mutation activity. If you’re done, answer the following questions:

1.What is the difference between a gene and a chromosome mutation?

2.What are the four different types of chromosome mutations?

3.What is a karyotype?

a gene mutation affects just one nucleotide of just one gene; a chromosome mutation affects a much larger piece

of a chromosome

Tuesday, January 15, 2013

Bell Work: Turn in HW. Finish chromosome mutation activity. If you’re done, answer the following questions:

1.What is the difference between a gene and a chromosome mutation?

2.What are the four different types of chromosome mutations?

3.What is a karyotype?

deletion, inversion, duplication, translocation

a gene mutation affects just one nucleotide of just one gene; a chromosome mutation affects a much larger piece

of a chromosome

Tuesday, January 15, 2013

Bell Work: Turn in HW. Finish chromosome mutation activity. If you’re done, answer the following questions:

1.What is the difference between a gene and a chromosome mutation?

2.What are the four different types of chromosome mutations?

3.What is a karyotype?

deletion, inversion, duplication, translocation

a gene mutation affects just one nucleotide of just one gene; a chromosome mutation affects a much larger piece

of a chromosome

a picture of an individual’s chromosomes

Tuesday, January 15, 2013

Quick Question

• Tay-Sachs disease results from a frameshift mutation on Chromosome 15, where it does not have the enzyme hexosaminidase A. What kind of frameshift mutation was this? What resulted?

Tuesday, January 15, 2013

Karyotypes1. How many chromosomes does a person have?2. Where does each set of chromosomes come from?3. What is the name for a cell with two sets of chromosomes?4. Is this person a male or a female?

Normal Karyotype

Tuesday, January 15, 2013

Karyotypes1. How many chromosomes does a person have?2. Where does each set of chromosomes come from?3. What is the name for a cell with two sets of chromosomes?4. Is this person a male or a female?

46

Normal Karyotype

Tuesday, January 15, 2013

Karyotypes1. How many chromosomes does a person have?2. Where does each set of chromosomes come from?3. What is the name for a cell with two sets of chromosomes?4. Is this person a male or a female?

46

from each parent

Normal Karyotype

Tuesday, January 15, 2013

Karyotypes1. How many chromosomes does a person have?2. Where does each set of chromosomes come from?3. What is the name for a cell with two sets of chromosomes?4. Is this person a male or a female?

46

from each parent

diploid Normal Karyotype

Tuesday, January 15, 2013

Karyotypes1. How many chromosomes does a person have?2. Where does each set of chromosomes come from?3. What is the name for a cell with two sets of chromosomes?4. Is this person a male or a female?

46

from each parent

diploid

male

Normal Karyotype

Tuesday, January 15, 2013

Down Syndrome• Cause: 3 copies of chromosome 21

• Symptoms: some impairment of cognitive ability, particular set of facial characteristics

Tuesday, January 15, 2013

Turner Syndrome• Cause: females with only one X chromosome

• Symptoms: short stature, swelling of hands and feet as infants, sterile

Tuesday, January 15, 2013

Klinefelter’s Syndrome• Cause: males with extra X chromosome

• Symptoms: limited intelligence, sterile

Tuesday, January 15, 2013

Cri-du-chat• Cause: a piece of chromosome 5 is deleted

• Symptoms: sever cognitive, speech, and motor delays

Tuesday, January 15, 2013

Catalysts for Mutations• Mutagens: external agents that change

DNA

• Ex: Radiation (x-rays); chemicals

• Carcinogens: mutagens linked to cancer

• Skin cancer: linked to ultraviolet rays from the sun and tanning beds

• Chemicals: tobacco, asbestos, benzene, pesticides

Tuesday, January 15, 2013

Karyotype ActivityDirections: Arrange the chromosomes into their 23 pairs. Determine if the individual is affected with any type of chromosome disorder, and if so, identify what the disorder is.

Tuesday, January 15, 2013

1. Cri-du-chat

Tuesday, January 15, 2013

2. Female w/ Down Syndrome

Tuesday, January 15, 2013

3. Male w/ Down Syndrome

Tuesday, January 15, 2013

4. Normal Female

Tuesday, January 15, 2013

5. Klinefelter’s Male

Tuesday, January 15, 2013

6. Turner Syndrome Female

Tuesday, January 15, 2013

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