combine degree dr budu
TRANSCRIPT
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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.
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Basic of genetic sciences
Gambar cel
chromosome
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A discrete unit of genome carrying many genes.
ach chromosome consist of a very long molecule of
duplex DNA and proteins !histone and nonhistone".
#t is visible as morphological entity only during cell division
$hromos % color& and soma% body& because they stain
deeply with certain biological dyes.
Chromosome :
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Gambar kromosome dgn dna di dalamnya
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Karyotype = a characteriastic (number, morphology, and gene map) ofchromosome for each species.
Terminology
acteria
(ruits flies
)eas
ees
$orn
(rog(ox
$at
*ouse
+at
+abbit
,uman
$hicken-ome species of fern plans
/
0
1
23
21
40
4/
03
02
00
01
5/
6333
Number of chromosomes in one cell of different species
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7ur genetic information is stored in 24
pairs of chromosomes that vary widely in
si8e and shape. $hromosome is the
largest and is over three times bigger than
chromosome 22. The 24rd pair of
chromosomes are two specialchromosomes& 9 and :& that determine our
sex. (emales have a pair of 9
chromosomes !01& 99"& whereas males
have one 9 and one : chromosomes !01&
9:". $hromosomes are made of DNA& and
genes are special units of chromosomalDNA. ach chromosome is a very long
molecule& so it needs to be wrapped tightly
around proteins for efficient packaging.
http;
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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.
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Gbr lengan?2
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(or example& the hemoglobin beta gene !HBB" is found on chromosome
[email protected]. This means that the HBB gene lies on the short arm !p" of
chromosome and is found at the band labeled @.0.
$ontains approximately 233
genes
$ontains approximately 33million base pairs& of which
over /3 have been
determined
-ee the diseases associated
with chromosome @ in the
*apBiewer.
http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=hum&query=uid(2044,2895,6296,6972,8321,8322,9026195,9026581,9027343,9028032)&qstr=SNRPN+OR+UBE3A+OR+HEXA+OR+FBN1&CHR=15&MAPS=ideogr[1669.130000:4684.560000],morbid[1669.130000:4684.570000]&ZOOM=100.000000http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=hum&query=uid(2044,2895,6296,6972,8321,8322,9026195,9026581,9027343,9028032)&qstr=SNRPN+OR+UBE3A+OR+HEXA+OR+FBN1&CHR=15&MAPS=ideogr[1669.130000:4684.560000],morbid[1669.130000:4684.570000]&ZOOM=100.000000
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$hromosome
$ontains over 4333
genes
$ontains over 203 million
base pairs& of whichC3 have been
determined
-ee the diseases
associated with
chromosome in the
*apBiewer
http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=hum&CHR=1&BEG=0.00&END=15100.00&MAP0=ideogr,genec&VERBOSE=ON&COMPRESS=on&WIDTH=350&SIZE=20&QUERY=uid(2463,4397,5215,5359,5728,7022,9026518,9026566,9027345,9027957)&QSTR=UROD+OR+GBA+OR+HPC1+OR+GLC1A+OR+PS2&CMD=&FILL=0&ZOOM=0&ABS_ZOOM=0&GNL=Nonehttp://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=hum&CHR=1&BEG=0.00&END=15100.00&MAP0=ideogr,genec&VERBOSE=ON&COMPRESS=on&WIDTH=350&SIZE=20&QUERY=uid(2463,4397,5215,5359,5728,7022,9026518,9026566,9027345,9027957)&QSTR=UROD+OR+GBA+OR+HPC1+OR+GLC1A+OR+PS2&CMD=&FILL=0&ZOOM=0&ABS_ZOOM=0&GNL=None
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$hromosome 4
$ontains approximately /33
genes
$ontains over 3 million
base pairs& of which over/3 have been determined
-ee the diseases associated
with chromosome 4 in the
*apBiewer.
http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=hum&query=uid(517,647,2539,5614,9026108,9026559,9027119,9028037)&qstr=CX26+OR+ATP7B+OR+RB1+OR+BRCA2&CHR=13&MAPS=ideogr[1387.810000:3565.030000],morbid[1387.800000:3565.040000]&ZOOM=100.000000http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=hum&query=uid(517,647,2539,5614,9026108,9026559,9027119,9028037)&qstr=CX26+OR+ATP7B+OR+RB1+OR+BRCA2&CHR=13&MAPS=ideogr[1387.810000:3565.030000],morbid[1387.800000:3565.040000]&ZOOM=100.000000
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$hromosome 9
$ontains over 033 genes
$ontains over @3 million
base pairs& of which
approximately @ have been
determined
-ee the diseases associated
with chromosome 9 in the
*apBiewer.
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enotype : is genetic constitution of an organism
!henotype : is the appearance or other characteristic ofan organism resulting from the interaction of its genetic constitution
"ith the en#ironment.
2
4
,as no mutated alleles
,as mutated alleles
,as 2 mutated alleles
Fild type
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$umber of human chromosome
%omatic cell % 24 pairs of chromosome
22 pairs chromosome autosome
pairs of sex chromosome
diploid
ametes ; 24 numbers of chromosome
haploid
mitosis
meiosis
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mitosis
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meiosis
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&$', $' and !rotein
%tructure &$' :
E DNA was made up of individual unit called nucleotidesE The nucleotide are linked each other to form long chain
A nucleotide consists of three components
. An organic base2. A five?carbon sugar !pentose"
4. A phosphate group
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a s e
$,2
!
?
,,
,
,
,
7,
0
*
42
+
Deoxyribosa
) group attached to the @H carbon of the sugar
7rganic base attached to the H carbon of the sugar
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%tructure $' :
-imilar to DNA& except ;
-ingle stranded
+ibose replaces deoxyribose as a pentose
Iracil replaces thymine.
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a s e
$,2
!
?
,,
,
7,
,
7,
0
*
42
+
+ibose
Iracil
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a s e
)yrimidine
)urine
$ytosine ! $ "
Thymine ! T "
Adenine !A"
Guanine !G"
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Gbr purine and pirimidine
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1odel of doublehelical &$'
ase pair
Deoxyribose?phosphat backbone
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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
gtccagcac a agaagctgcg cacgcctct c aactacatcctgctcaacct agccgtggct gacctcttca tggtcctagg
tggcttcacc agcaccctct acacctctct gcatggatac
ttcgtcttcg ggcccacagg atgcaatttg gagggcttct
ttgccaccct gggcggtatg agccgggtgt gggtggggtg
tgcaggagcc cgggagcatg gaggggtctg ggagagtcccgggcttggcg gtggtggctg agaggccttc tcccttctcc
tgtcctgtca atgttatcca aagccctc
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1et (initiation codon) 0/ bp upstream
T to C change1et (initiation codon)
T to C change 1et (initiation codon)
2etero3ygote= T4C
5ild type = T4T
2omo3ygote=C4C 6
78
The base pair alteration of T to C at -20 bp upstream from the initiation codon of RA
78
78
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The genetic code
The maJority of genes encode information for
the production of protein chain
)rotein are essential polymer that are involved in
almost all biological function
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enetic Code
The genetic code is read in groups of three nucleotide,
KKKKKcalled codon
ach group representing one amino acid
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The amino acid of proteins and their designation
Amino acidsThree letter
designation-ingle?letter
designaton
Alanine
Arginine
Aspargine
Aspartic acid
$ysteine
Glutamic acid
Glutamine
Glycine
,istidine#soleucine
Ala
Arg
Asn
Asp
$ys
Glu
Gln
Gly
,is#so
A
+
N
D
$
L
G
,#
Amino acidsThree letter
designation-ingle?letter
designaton
Meucine
Mysine
*ethionine
)henylalanine
)roline
-erine
Threonine
Tryptophan
TyrosineBaline
Meu
Mys
*et
)he
)ro
-er
Thr
Trp
Tyr Bal
M
*
(
)
-
T
F
:B
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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
*et Gln )he Gly Gly Meu Meu -top codon$ys
*L(GGMM$ stop
@H? ?4H
N? ?$
A series of codon that is read seOuentially from starting point at one
to the termination point at the other end.
Fritten in the conventional @H?4H direction
A series of codon encodes for protein corresponds to the amino acid
seOuence.
Fritten in the direction from N?terminus to $?terminus.
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a s e
)yrimidine
)urine
$ytosine ! $ "
Thymine ! T "
Adenine !A"
Guanine !G"
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