The picture on the right shows a cell.

The darker spot is

it's nucleus which contains the DNA. The membrane of
the nucleus separate the DNA from the rest of the cell's
contents because the external environment outside the
nucleus may cause the genetic coding on DNA to
change.

Basic of genetic sciences

Gambar cel
chromosome

Chromosome :
A discrete unit of genome carrying many genes.
Each chromosome consist of a very long molecule of
duplex DNA and proteins (histone and nonhistone).
It is visible as morphological entity only during cell division
Chromos = color, and soma= body, because they stain
deeply with certain biological dyes.

Gambar kromosome dgn dna di dalamnya

Terminology

Karyotype = a characteriastic (number, morphology, and gene map)

of

chromosome for each species.

Number of chromosomes in one cell of different species

Bacteria
Fruits flies
Peas
Bees
Corn
Frog
Fox

1
8
14
16
20
26
34

Cat
Mouse
Rat
Rabbit
Human
Chicken
Some species of fern plans

38
40
42
44
46
78
>1000

Our genetic information is stored in 23

pairs of chromosomes that vary widely in
size and shape. Chromosome 1 is the
largest and is over three times bigger than
chromosome 22. The 23rd pair of
chromosomes are two special
chromosomes, X and Y, that determine our
sex. Females have a pair of X
chromosomes (46, XX), whereas males
have one X and one Y chromosomes (46,
XY). Chromosomes are made of DNA, and
genes are special units of chromosomal
DNA. Each chromosome is a very long
molecule, so it needs to be wrapped tightly
around proteins for efficient packaging.
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
rid=gnd.TOC&depth=2
http://www.ncbi.nlm.nih.gov/books/bookres.fcgi/gnd/pdf.html
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.chapter.272

Locus : A precise position of a arranged genes along the chromosomes

(in linear order)

Gene that have their loci o the same chromosome are said to be

linked or syntenic.

Alternative forms of a gene that can occupy the same locus are called

alleles.

Gbr lengan-2

For example, the hemoglobin beta gene (HBB) is found on chromosome

11p15.4. This means that the HBB gene lies on the short arm (p) of
chromosome 11 and is found at the band labeled 15.4.

Contains approximately 1200

genes
Contains approximately 100
million base pairs, of which
over 80% have been
determined
See the diseases associated
with chromosome 15 in the
MapViewer.

Chromosome 1
Contains over 3000
genes
Contains over 240 million
base pairs, of which
~90% have been
determined
See the diseases
associated with
chromosome 1 in the
MapViewer

Chromosome 13
Contains approximately 800
genes
Contains over 110 million
base pairs, of which over
80% have been determined
See the diseases associated
with chromosome 13 in the
MapViewer.

Chromosome X
Contains over 1400 genes
Contains over 150 million
base pairs, of which
approximately 95% have been
determined
See the diseases associated
with chromosome X in the
MapViewer.

Genotype : is genetic constitution of an organism

Phenotype : is the appearance or other characteristic of

an organism resulting from the interaction of its genetic constitution
with the environment.
Individual

F508 mutations ?

Genotypes

Phenotype

Has no mutated alleles

Wild type/wild type

No. CF

Has 1 mutated alleles

Wld type/F508

Carrier of CF

Has 2 mutated alleles

F508 / F508

Affected with CF

Number of human chromosome

Somatic cell = 23 pairs of chromosome

22 pairs chromosome autosome
1 pairs of sex chromosome
diploid
mitosis
Gametes : 23 numbers of chromosome
haploid
meiosis

mitosis

meiosis

DNA, RNA and Protein

Structure DNA :
DNA was made up of individual unit called nucleotides
The nucleotide are linked each other to form long chain

A nucleotide consists of three components

1. An organic base
2. A five-carbon sugar (pentose)
3. A phosphate group

Base
P
-

5
CH2

4
H
H
Deoxyribosa

OH

H
2

P group attached to the 5` carbon of the sugar

Organic base attached to the 1` carbon of the sugar

Structure RNA :

Similar to DNA, except :

Single stranded
Ribose replaces deoxyribose as a pentose
Uracil replaces thymine.

Base
P

Uracil

5
CH2

4
H
H
Ribose

OH

H
2

OH

Cytosine ( C )
Pyrimidine

Thymine ( T )
Base
Adenine (A)
Purine

Guanine (G)

Gbr purine and pirimidine

Double- stranded helix of DNA

1. Two long chains (strand)
2. The coiled polynucleotide chains are held together by
hidrogen bonds between the bases of the opposite strands
3. The base pairs (bp) occur as specific set of complementary pairs

A pairs only with T---- (AT) , and G only pairs with C----- (CG)
4. AT with two hidrogen bonds and CG with three hodrogen bonds

The numbers of base pairs (bp) determine the length of

double stranded DNA
1.000 bp
4 kb
2 Mb

Model of double-helical DNA

Base pair

Deoxyribose-phosphat backbone

agctcaggcc ttcgcagcat tcttgggtgg gagcagccac

gggtcagcca caagggccac agccatgaat ggcacagaag
gccctaactt ctacgtgccc ttctccaatg cgacgggtgt
ggtacgcagc cccttcgagt acccacagta ctacctggct
gagccatggc agttctccat gctggccgcc tacatgtttc
tgctgatcgt gctgggcttc cccatcaact ct ctacgtcacc
gtccagcaca agaagctgcg cacgcctctc aactacatcc
tgctcaacct agccgtggct gacctcttca tggtcctagg
tggcttcacc agcaccctct acacctctct gcatggatac
ttcgtcttcg ggcccacagg atgcaatttg gagggcttct
ttgccaccct gggcggtatg agccgggtgt gggtggggtg
tgcaggagcc cgggagcatg gaggggtctg ggagagtccc
gggcttggcg gtggtggctg agaggccttc tcccttctcc
tgtcctgtca atgttatcca aagccctc

The base pair alteration of T to C at -20 bp upstream from the initiation codon of RAB
- 20 bp upstream

Met (initiation codon)

ORF

Wild type = T/T

T to C change

Met (initiation codon)

ORF

Heterozygote= T/C

T to C change

Met (initiation codon)

ORF

Homozygote=C/C ?

The genetic code

The majority of genes encode information for

the production of protein chain
Protein are essential polymer that are involved in
almost all biological function

Genetic Code
The genetic code is read in groups of three
called codon
Each group representing one amino acid

nucleotide,

The amino acid of proteins and their designation

Amino acids

Alanine
Arginine
Aspargine
Aspartic acid
Cysteine
Glutamic acid
Glutamine
Glycine
Histidine
Isoleucine

Three letter
designation

Ala
Arg
Asn
Asp
Cys
Glu
Gln
Gly
His
Iso

Single-letter
designaton

Amino acids

A
R
N
D
C
E
Q
G
H
I

Leucine
Lysine
Methionine
Phenylalanine
Proline
Serine
Threonine
Tryptophan
Tyrosine
Valine

Three letter
designation

Leu
Lys
Met
Phe
Pro
Ser
Thr
Trp
Tyr
Val

Single-letter
designaton

L
K
M
F
P
S
T
W
Y
V

A series of codon that is read sequentially from starting point at one

to the termination point at the other end.
Written in the conventional 5`-3` direction
A series of codon encodes for protein corresponds to the amino acid
sequence.
Written in the direction from N-terminus to C-terminus.

5`-

a t g c a a t t t g g a g g g c t t c t t t g c t g a -3`
Met

Gln

Phe Gly

Gly Leu Leu Cys Stop codon

N- MQFGGLLC stop -C

Cytosine ( C )
Pyrimidine

Thymine ( T )
Base
Adenine (A)
Purine

Guanine (G)