1. LO: SWBAT explain the difference between chromosome mutations and gene mutations and give an example of each.
DN: Quiz
HW: Review Book- Biochemistry (due
Monday)
Test Wednesday

2. Chromosome Mutation: Causes a change in chromosome number.
Nondisjunction- occurs when homologous
chromosomes or sister chromatids fail to separate during meiosis.

3. karyotype

4. Trisomy Vs Monosomy: 3 Copies of a 1 copy of a Chromosome
Monosomy X
3 Copies of a
Chromosome
1 copy of a
homologous pair
Down Syndrome
Turner Syndrome

5. What causes nondisjunction to occur?
No one really knows for sure, but the older the age of the mother the greater the likelihood of having a child with Down Syndrome.
Trisomy 21

6. Chromosome Damage: Part of a chromosome is repeated.
missing.
Reversing a fragment of them chromosome.
A fragment of one chromosome attaches to a nonhomlogous chromosome.

7. Down Syndrome extra Trisomy 21- _______ copy of chromosome 21
Problems with brain and eye development
Problems with physical development
Chance of having a baby with down syndrome increases after the age of ____
extra 35

8. a change in the nucleotide sequence of DNA.
Gene Mutations:
a change in the nucleotide sequence of DNA.

9. cystic fibrosis mutation in gene in chromosome 7
Buildup of thick _______ in respiratory and digestive tract
Defect in gene that causes abnormally large amounts of mucus to build up
__________- must have both copies of the gene
mucus
recessive

10. Tay Sachs Disease Mutation of gene on chromosome 15
Absence of __________ hexosaminidase A(hex-A)
Causes a ________ to accumulate in cells- especially nerve cells
Usually death by age 5
_________- must have both copies of the gene
enzyme
fat
recessive

11. sickle cell anemia mutation of gene on chromosome 11
change in amino acid sequence of ____________
RBC’s are _________ shaped
__________- must have both copies of the gene unable to transport ________ throughout body
hemoglobin
crescent
recessive
oxygen

13. PKU Mutation on gene of chromosome 12
Missing _________ to break down the amino acid phenylalanine
______________ accumulates in blood and tissue
Neurological problems, mental retardation
Treated with a well maintained diet- cannot consume products with phenylalanine in it- high ________ foods
__________- must have both copies of the gene
enzyme
phenylalanine
protein
recessive

14. Huntington’s disease Dominant
__________- if you have the gene, you have the disease
Neurological disorders
Chromosome 4
Symptoms show up ______ child bearing years
after
Huntington 2
Huntington video

15. What do these gene mutations have in common?
They all affect the shape of proteins!! If we change the shape of proteins (enzymes) they will not function properly and this will affect our phenotype.