Combine Degree Dr Budu

8/18/2019 Combine Degree Dr Budu

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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


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


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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