Mohammed Sultan aljumi.

li
421109711 29th August, 2023

Principle of Medical Genetics (MDL242)

Lab Exercise- Instruments and Tools

Mention the functions of the following laboratory instruments and tools

1. UV-Visible Spectrophotometer
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transmitted light i through the samplesolution
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2. Thermal Cycler

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segments
f DN't Ine t.fi cpfpgamait
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ac
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3. Centrifuge

c tiffgation is a technique of separating particulate matters bacteria

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4. Horizontal electrophoresis system

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 5. Poly-acrylamide Gel Electrophoresis (PAGE)

I It is generally used for the separation of Proteins

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In
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s proteins
6. Wet and Semi-dry Transfer apparatus

name
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t.eni.name
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anweim mar
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dosenotcontainseparatetransferbufferchamber
good for transferofhigh molecular weight proteins
2 not
7. pH Meter

A pH meter is a scientific instrument that measures the histogenion activity in water

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base
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solution indicating its acidity of alkalinity which is expressed as
2 PH value of solution tanges from 1 to 14
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A pH meter is used to determine the pH
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8. Rocking platform

tot homogeneous mixing in flasksculture

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if eyed
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a
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P ideal for the western blotting Get staining and
2 my ging are
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9. Heating block

I ............................................................................................................................................................
Heating block provides constant and precise temperture
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2 it is used in microbiology and clinical laboratories for incubation enzyme
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inactivationboiling
assay
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10. Digital Weighing balance

A weightbalance is an instrument whichis used to determine the weight of mass of

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chemical
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and object
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2 it can weight the chemicals in milligrams with great accuracy
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and precision

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 11. Vortexer

A vortex mixer or vortexet is a simple device used commonly in

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EE
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n
n
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12. Heating magnetic stirrer

A magnetic stitting system general includes a coupled heating system for

1 ............................................................................................................................................................
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used in chemical and
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free It
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13. UV-light Illuminator

1 The UV trans illuminator works by emittinin high level of Uv light

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in i i ii ii
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14. Laminar Flow Hood

Laminat hood is an enclosed flow chamber for preventing the

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ii
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15. Tissue Dissociator

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rinttn e.ttottreseni automate
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2 ............................................................................................................................................................
can be used to prepare single cell suspension of organs and tumors
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16. Probe Type Sonicator

This is a Probe type sonicator

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2 17 is used in nanotechnology for Petpating and liposomes
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It is also used to lyse the cells with strong
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cell wall
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 17. Flow Cytometry

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in

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18. Microplate reader

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in
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e
t.sn Ee.EYn'e Ii Y5a 9
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19. Micropipettes

ivet accurate
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m
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net.au
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tte are commonly used in the vitology immunology
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20. Power pack

electrical device that supplies

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s
if fete LY
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a
is used current in the electrophoresis
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it to supply the
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and immunoblotting
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4
Pedigree Worksheet
Mohammed
Name ____________________________________
Sultan
I
aljumili
1 2
= Huntington’s
Disease
II 1 2 4 5
3 6 7 8

III
1 2 3 4 5

5
1. Which members of the family above are afflicted with Huntington’s Disease? _________________________________ members
2. There are no carriers for Huntington’s Disease- you either have it or you don’t.
dominant
With this in mind, is Huntington’s disease caused by a dominant or recessive trait? ____________________________

3
3. How many children did individuals I-1 and I-2 have? _______________________________________________

2
4. How many girls did II-1 and II-2 have? ______________ How many have Huntington’s Disease? ________________
one
cousin grand mother
5. How are individuals III-2 and II-4 related? ________________________ I-2 and III-5? _________________________

6. The pedigree to the right shows a family’s pedigree

for Hitchhiker’s Thumb. Is this trait
recessive
dominant or recessive? _______________________
I
1 2
7. How do you know? _________________________
e skip
general
___________________________________________

8. How are individuals III-1

II
1 2 3 4
related
and III-2 related? ________________________
mattinge
9. How would you name the 2 individuals that III
1 2 3 4
have hitchhiker’s thumb? ___________________
sibling IV
10. Name the 2 individuals that were
carriers of hitchhiker’s thumb. ______________ 1 2 3
III 1 and 2
yes because she
11. Is it possible for individual IV-2 to be a carrier? ___________ Why? ________________________________________
retrozoyouse
12. The pedigree to the right shows a family’s pedigree
**half-shaded = carrier of disease
for colorblindness. Which sex can be carriers of I

females
colorblindness and not have it? ______________________

13. With this in mind, what kind of trait is II

recessive x ling
colorblindness (use your notes)? ______________________

14. Why does individual IV-7 have colorblindness?

she has
_________________________________________________
chromosompapeff all III
15. Why do all the daughters in generation II carry the
d affected
colorblind gene? ____________________________________
from49 IV
1 5
16. Name 2 IV generation colorblind males. _________
1 2 3 4 5 6 7 8
 Mohammed Sultan
Name ____________________________________

Genetics Pedigree Worksheet

A pedigree is a chart of a person’s ancestors that is used to analyze genetic inheritance of certain traits –
especially diseases. The symbols used for a pedigree are:

female, unaffected male, unaffected

female, affected male, affected

•
Siblings are placed in birth order from left to right and are labeled with numbers.
•
Each generation is labeled with a Roman numeral.
o Example: we would name an individual II-3 if he/she was in the second generation and the 3rd

nliumil .EE
child born
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I
1 2 3 4 5 6

II
1 2 3 4 5 6 7 8 9

III
1 2 3 4 5 6 7 8

Try to identify the genotypes of the following individuals using the pedigree above.
(homozygous dominant, homozygous recessive, heterozygous)
• III-3: ___________________________________
e • I-1: ____________________________________
• II-1: ____________________________________
n
s's
• II-4: ____________________________________

1. Is this trait dominant or recessive? Explain your answer.

___________________________________________________________________________________________
recessive because they ate skip generation
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___________________________________________________________________________________________

2. How can you know for sure that individuals II-3 and II-4 are heterozygous?
___________________________________________________________________________________________
they have childets where affected and they must be carries
___________________________________________________________________________________________
because the triat is recessive
3. Brown eyes are a dominant eye-color allele and blue eyes are recessive. A brown-eyed woman whose father
had blue eyes and whose mother had brown eyes marries a brown-eyed man whose parents are also brown-eyed.
They have a son who is blue-eyed. Please draw a pedigree showing all four grandparents, the two parents, and
the son. Indicate which individuals you are certain of their genotype and where there are more than one
possibilities.

brown blue

brown brows

blue
 Medical Genetics (MDL 242) 1st November, 2023

Laboratory Exercise

Student name:Mohammed Sultan aliumili

ID: 421109711
1. Why did Thomas Morgan choose Drosophila as a model animal for his study?
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short geration time
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East to maintion
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4 latge chrome lose
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Markets
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2. In Drosophila red eye color (R) is dominant to white eyes (r) and is a sex linked

__
trait. A heterozygous red eye female mates with a red eye male.

a. How many will have red eyes?

b. What percent will have white eyes?

c. How many will be female and red eyed?

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results
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generation res etes 3 175
f
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f

f
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white esed 1 25
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red eyes females 2
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3. The mutation for Bar-shaped eyes in Drosophila has the following

characteristics of inheritance.
a. Bar males x wildtype (round-eyed) females produce wild type sons and Bar
daughters

b. The Bar females from the mating in part a, when crossed with wildtype males,
yield a 1:1 ratio of Bar: wildtype sons and Bar: wildtype daughters.

What mode of inheritance do these characteristics suggest?

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1 1tatio of Bat females
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wildtype males
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 MDL 242 Laboratory Exercise 8th November, 2023

Study Questions

Student name:
Mohammed sultan aliumili
ID:4211097 11
1. What is Genetic code? What do you mean that genetic code is universal?
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The gentic code of an organism is the sequence
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of ousse along its DNA
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The genetic code almost universal the same
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squence of bases codes for the same amino acid
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2. Define degenerate and non-overlapping characteristics of genetic code.
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es n Y
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a
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The genetic code is non overlapping each
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buses is only Part of triplet Codon and
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each triplet codon just
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one amino acids
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3. What are the start and stop codons? Write the central dogma of Molecular
Biology.
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start codon the codon AVG
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stop coders 3 coders UAA UGA UAG
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bio1o9
ant Ff.info ffIgt
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one direction
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DNA RNA Potation
TI.EE siation
4. What are the reagents of the polymerase chain reaction (PCR) ?

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PCR buffet

ftP
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mix
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PCR reagent
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Tag DNA polymerase
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Dpw
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5. What is a primer? Mention the characteristics of a good primer.

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it's a shott synthetic oligonucleotide
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Primet length
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3 end
stability
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melting temperature TM
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 Laboratory Exercise 6th September, 2023

Blood Group Genetics

Study Questions

Student name:Mohammed Sultan aljumili

ID:
421109711
1. What are the possible genotypes for blood groups O, A, B, AB?
______________________________________________________________________

IEEE
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________

2. A and B blood group genes are dominant over the O blood group. A and B blood
group genes are co-dominant. Give an explanation for these statements.

_______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
_____________________________________________________________________

o
3. A man who has type B blood (genotype: Bb) is married to a woman with type O
blood. What blood group types will their children have?

______________________________________________________________________
______________________________________________________________________
______________________________________________________________________

Y
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
 Medical Genetics (MDL 242) 27th September, 2023

Laboratory Exercise-Meiosis

Student name: mohammed Sultan aljumi.li

ID: 421109711
1. Write three differences between mitosis and meiosis?
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1 Purpose
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2 Numbers of cell division
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3 length of Pto Phase
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2. What is crossing over? What is its significance?

tossing over is one of the two major occurrences

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of meiosis it's creates variation in the offspring
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3. What is non-disjunction of chromosomes? Write the names of four common dis-
junction disorders.
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of homologous chromosomes to separate
1
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emf
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5
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2 Turret syndrome monoson 23 X
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3 Kleinfelter syndrome trisomy 23 XXX
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4 Edward syndrome trisomy 18
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 20th September 2023

Medical Genetics (MDL 242) Laboratory Exercise

Study Questions

Student name:Mohammed Sultan aljumili

ID: 421109711
1. Define mitosis. What types of cells undergo mitosis cell division?

2. What are important events taking place in Prophase, Metaphase, Anaphase and
Telophase.

ie iii ii iiifi i ii iii i

chromosome spindle fiber are gone

3. What is the significance of mitosis?

1 growth
2 tepuit Healing
3 Asexual te production
 Medical Genetics (MDL 242) 13th September, 2023
Laboratory Exercise

Mohammed Sultan
Student name:
aljumi.li
ID:
4217097 11
1. Classify the chromosomes based on the position of the centromere.

middle metacentric
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_____________________________________________________________________
between middle and end sub meta centric
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_____________________________________________________________________
Close to end alto centric
_____________________________________________________________________
_____________________________________________________________________
At end telo centti
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________

2. What is a karyotype? What information did you get from karyotype analysis?
_____________________________________________________________________

Katyotype is the
_____________________________________________________________________
general morphology of somatic
_____________________________________________________________________
Chliomosomes
_____________________________________________________________________

Karyotype
_____________________________________________________________________
analysis in helpful in
_____________________________________________________________________
1 number of chromosomes
_____________________________________________________________________
3 pile isence
_____________________________________________________________________
of individual chromosomes
3. Explain G, Q, R, C and T banding of chromosomes?
Banding Siemsa busing light and dark bandsDark bands are called 5 bands
_____________________________________________________________________
G
_____________________________________________________________________
Q Banding Quinacrine bandingsome bands brightly fluoresce some are aim Din
_____________________________________________________________________
treatments of chromosomes results in centromere
_____________________________________________________________________
_____________________________________________________________________
banding
R Bardins hatchet treatment of chromosomes
_____________________________________________________________________
_____________________________________________________________________
before giensa staining
_____________________________________________________________________

T Banding
_____________________________________________________________________
staining where telomeres are strongly
_____________________________________________________________________
stained
____________________________________________________________________
 Medical Genetics (MDL 242) October 18, 2023

Laboratory Exercise
Student name:
Mohammed Sultan aljumi.li
ID:42119711

1. Write Nucleic acid preparation applications?

1 medical studies
2
Agricultural studies
3 Criminology Paternity
2. Write the functions of the following reagents in DNA isolation.

EDTA.

is a chelating agent of divalent

cations
SDS.
such as Mg2t
sodium dodecyl sulfate
Proteinase K.
is usual to remove most of the Ptotic
by digesting
Lysis buffer.
with Proteolytic enzymes
is a crucial combonet in DNA
NaCl.
isolation procedures
is often used in various steps to achieve
Isopropanol.

separating it from other contaminants

 Laboratory Exercise 15th November 2023

Western Blotting-Study Questions

Student name:
Mohammed Sultan aljumi.li
ID: 421109711

1. What are the ingredients of the gel in SDS-PAGE?

Sodium dodecyl sulfate IDS

________________________________________________________________________
________________________________________________________________________
________________________________________________________________________
buffet
this_Glycine
________________________________________________________________________

TEMED
________________________________________________________________________
________________________________________________________________________
________________________________________________________________________
________________________________________________________________________

2. Write the major steps in the Western blotting. What are the applications of the
Western blotting?
________________________________________________________________________
gel electrophoresis
________________________________________________________________________
1
________________________________________________________________________
Membtan transfer
________________________________________________________________________
2
________________________________________________________________________
3 blacking
________________________________________________________________________
________________________________________________________________________
4 Incubation with Primet
________________________________________________________________________
antibody
________________________________________________________________________
incubation wits antibody
________________________________________________________________________
5 secondary
________________________________________________________________________
incubation with substrate
________________________________________________________________________
6
________________________________________________________________________

the application
________________________________________________________________________
________________________________________________________________________
________________________________________________________________________
I I S
________________________________________________________________________
a protein
________________________________________________________________________
________________________________________________________________________
Analyze Protein Protein interaction
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