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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