1. The document discusses proteins moving based on size in columns A, B, and C, with the LDL receptor proteins moving farther down the columns for George compared to normal. 2. Rachel looked at George's DNA because something was different at a spot on his chromosome 19, which is related to the LDL receptor that causes his familial hypercholesterolemia condition. 3. By analyzing the family's DNA, Rachel could determine if others in George's family also had changes in the gene for the LDL receptor that controls cholesterol levels.

1. Proteins Move Based on Size
lactase
tyrosinase
Learning Set 3 : Lesson 1 : Slide 1

2. Analyzing LDL receptor
A B C
LDL
receptor
Why did these LDL
receptor proteins move
Normal LDL Receptors
farther down the
columns?
George’s LDL Receptors
Learning Set 3 : Lesson 1 : Slide 2

3. What Is The Difference Here?
Sequence of amino acids in LDL receptor protein:
Column A
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQF
WRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDC
EDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDC
KDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLV
AQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTE
VASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIV
VDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSL
AVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPD
GMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVR
ALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDV
Column B
VCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTL
DRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADT
KGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVN
GGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQY
LCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSH
QALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLED
DV
Column C
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQF
WRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDC
EDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDC
KDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLV
AQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTK
Learning Set 3 : Lesson 1 : Slide 3

4. DNA Location
Learning Set 3 : Lesson 2 : Slide 4

5. Chromosomes
Learning Set 3 : Lesson 2 : Slide 5

6. Pieces to DNA Model
6 T (Orange) 1 base 12 spacers 1 cap
6 A (Blue) (light brown) (transparent) (white)
6 G (Green)
6 C (Yellow)
1 rod (grey) 2 side chains composed
of alternating deoxyribose (red)
and phosphate (purple)
Learning Set 3 : Lesson 3 : Slide 6

7. DNA Base Pairs
Given DNA Matching DNA Strand
T
G
G
C
G
C
T
G
T
G
Learning Set 3 : Lesson 3 : Slide 7

8. Pieces to LDL Receptor Protein
DNA Model
Learning Set 3 : Lesson 3 : Slide 8

9. Marshmallow Color Key
Marshmallow Color Chemical Base
Orange Thymine (T)
Pink Adenine (A)
Green Guanine (G)
Yellow Cytosine (C)
Learning Set 3 : Lesson 3 : Slide 9

10. Step by Step Pictures
Step #1:
Learning Set 3 : Lesson 3 : Slide 10

11. Step by Step Pictures (cont.)
Step #2:
Learning Set 3: Lesson 3: Slide 11

12. Step by Step Pictures (cont.)
Step #3:
Learning Set 3 : Lesson 3 : Slide 12

13. Chromosomes to DNA to Genes
How small is small?
Learning Set 3 : Lesson 4 : Slide 13

14. From DNA to Proteins
Transcription -Translation
Learning Set 3 : Lesson 4 : Slide 14

15. From DNA to Proteins 1
Transcription & Translation Overview
Learning Set 3 : Lesson 4 : Slide 15

16. Symbols for Transcription -
Translation Models
Learning Set 3 : Lesson 4 : Slide 16

17. DNA vs. RNA
DNA RNA
Learning Set 3 : Lesson 4 : Slide 17

18. DNA vs mRNA
DNA RNA
Learning Set 3 : Lesson 4 : Slide 18

19. From DNA to Proteins 2
Transcription & Translation Interactive Modeling
Learning Set 3 : Lesson 4 : Slide 19

20. Coding Amino Acids
RNA
amino acid
Learning Set 3 : Lesson 4 : Slide 20

21. LDL Receptor
Learning Set 3 : Lesson 4 : Slide 21

22. Where are our genes?
Learning Set 3 : Lesson 4 : Slide 22

23. Location of LDL Receptor Gene
Learning Set 3 : Lesson 4 : Slide 23

24. LDL Receptor Gene
Segment
focused on
in class
Learning Set 3 : Lesson 3 : Slide 24

25. Marshmallow DNA Model
AC C G C GACAC
Learning Set 3 : Lesson 4 : Slide 25

26. RNA Marshmallow Color Key
Marshmallow Color Chemical Base
White Uracil (U)
Pink Adenine (A)
Green Guanine (G)
Yellow Cytosine (C)
Learning Set 3 : Lesson 4: Slide 26

27. Coding Amino Acids
RNA
amino acid
Learning Set 3 : Lesson 4 : Slide 27

28. Reviewing George’s Symptoms
Familial Hypercholesterolemia (FH)
• Very high cholesterol in blood
• Waxy patches on the skin
• Chest pain and heart attacks at a young age
• Build up of fatty deposits on under skin and in arteries
Knees and Fingers Coronary Artery: a heart artery
Fatty
Deposit
Fatty
Deposit
28
Learning Set 3 : Lesson 5 : Slide 28

29. George’s Family History
George
Heart attack: 25y
Learning Set 3 : Lesson 5 : Slide 29

30. Why George had a Heart Attack
Fatty Deposits Cross Section of
In Coronary Artery Coronary Artery
Tear in
Normal artery wall
Fatty
Deposit
Fatty
Narrowed
deposits
artery
made in
blocked by
artery
blood clot
wall
• Fatty deposits made in artery wall, high blood pressure
• Arteries harden and narrow due to fat accumulation
• Blood flow is reduced
• Oxygen supply to heart reduced
• Can cause chest pain heart attack or death in severe cases
30
Learning Set 3 : Lesson 5 : Slide 30

31. Cholesterol: Many Roles
Cholesterol Estrogen
Testosterone
Bile Acids
31
Learning Set 3 : Lesson 5 : Slide 31

32. Low density lipoprotein (LDL) Receptor
cholesterol
Cholesterol
in LDL
LDL Receptor
outside cell Plasma
Membrane
cell
inside cell
Takes LDL into cell
nucleus
32
Learning Set 3 : Lesson 5 : Slide 32

34. Analyzing George’s LDL receptor
A B C
LDL
receptor
George’s LDL receptor
34
Learning Set 3 : Lesson 5: Slide 34

35. Why did Rachel look at George’s DNA?
One of George’s
chromosomes,
chromosome 19, had
an arrow pointing at
one spot on it. This
arrow indicated
something was
different at this spot
on chromosome 19.
What does DNA have to do with the
LDL receptor that causes FH
disease? 35
Learning Set 3 : Lesson 5 : Slide 35

36. Analyzing the Family’s DNA
George
36
Learning Set 3 : Lesson 5 : Slide 36