1.

2 (C5 )
- Deoxyribose ( C 5H10O4 )
- Ribose ( C 5H10O5 )
2. Phosphate
3. Nitrogenous base
- Purine : Adenine (A) , Guanine (G)
- Pyrimidine : Thymine (T) , Uracil (U) , Cytosine (C)

RNA DNA
RNA
1.
2.
3. 4 A , U , C , G
4. ( 20,0002,000,000)
5. 3 mRNA, tRNA rRNA

DNA
1.
2.
3. 4 A , T , C , G
4. ( 100,000-150,000,000)
5.

1. DNA (DNA replication) 5 / END 3 / END

1 1
Semiconservative DNA 2 leading strand lagging strand

 ATP , TTP , CTP , GTP

DNA
polymerase III , DNA polymerase I, DNA ligase, Primase, Topoisomerase, Helicase,

2. (Protein synthesis)
2

DNA -------------------------> mRNA -----------------------------> ()

(Transcription)
(Translation)

(Transcription) Nucleus
: DNA template, nucleotide, ATP , RNA polymerase

. (Translation) Cytoplasm 3
: mRNA , tRNA , rRNA 2 (Ribosome) , ATP amino acyl
transferase 3 (Initiation) (Elongation)
(Termination) t RNA (stop codon) UAA UAG UGA
mRNA

1. 3 mRNA ( codon
mRNA )
2.

mRNA

5

(
)
3. AUG (Methionine) 5 3 mRNA
(UAA, UAG, UGA)
4. mRNA AUG 5 3
mRNA

 , mRNA, rRNA tRNA

(Mutation)
(Mutation)

Mutant 2
1. (Chromosomal mutation)

2. (gene mutation)

1. Cri-du-chat 1 : 50,000
Cat cry

5 ( 46,5p- )

syndrome

2. Prader-Willi
syndrome
Angelman
syndrome
3.Thalassemia
()

11

15
(46,15q11-)

/ 2
- - Thalassemia
16 globin chain
- - Thalassemia
11 globin chain

. ( )

1. Patau syndrome ( 47,XX 1: 22,700 trisomy 13 13

XY,+13,14 15+ )
trisomy
18 6
trisomy 18 18 1

3. Down syndrome ( 47,XX 1
:
830 trisomy 21
21

XY+21 )

( 85% )
50
2. Edward syndrome ( 47,XX 1; 7,500
XY,18+ )

. ( )

Turner syndrome
1. Turner syndrome 1: 5,000
( 45, X )


2. Triple X
syndrome ( 47,XXX
)
3. Klinefelter
syndrome ( 47,XXY
; 48XXXY ;
49,XXXXY )

4. Double Y
syndrome ( 47,XYY

85-90
1: 5,000

1:1,000 1:10,000

1:1,000

Y 1