2.7.2013(molecular Biology) 55 Flashcards
0
Q
CD markers for Neruoendocrine cells
A
CD56
CD57
1
Q
Paragangliomas which are chromaffin positive
A
Paravertebral
Paragangliomas in head and neck are chromaffin negative
Chromaffin stains catacholeamines
2
Q
S-100 positivity in neuroendocrine cells is because of
A
Sustentacular cells
3
Q
Tumors in klinefelter syndrome
A
Mediastinal germ cell tumors
NOT testicular tumors
4
Q
Karyotyping subdivision of chromosome
A
Arm
Region
Band
Sub band
5
Q
Banding useful in identifying Y chromosome
A
Q banding
6
Q
Rapid methods of chromosome identification
A
FISH
spectral karyotyping
Chromosome painting
7
Q
Centromere is rich in
A
AT
8
Q
Causes of aneuploidy
A
Anaphase lag
Non disjunction
9
Q
Time of performance of cordocentesis
A
18-20wks
10
Q
Satellite repeats
A
Microsatellite 2-6bp
Minisatellite 15-70bp
11
Q
Diseases diagnosed by RFLP
A
sickle cell anemia
PKU
12
Q
Mutations at several genetic loci producing the same trait
A
Genetic heterogeneity
13
Q
Excess Mg++ concentration in PCR results in
A
Accumulation of nonspecific amplification products
14
Q
Tth polymerase
A
Thermus Thermophilus
Both DNA polymerase and reverse transcriptase activity
15
Q
Assymetrical PCR
A
Only one strand is amplified
16
Q
Inverse PCR
A
Amplifies sequences on either side of known stretch
17
Q
RACE
A
Rapid amplification of complementary DNA ends
Anchored(one sided PCR)
18
Q
Use of RACE
A
Used to amplify ends of mRNA transcripts when only one end is known
19
Q
DNA polymerases used in PCR
A
Beta replicase from bacteriophage
T7 RNA polymerase
20
Q
Serial PCR
A
Nested PCR(two sets of primers added sequentially) Parallel PCR- multiplex PCR
21
Q
Fluorescent reporter probes
A
SYBR-green
Taqman
Molecular beacons
22
Q
Restriction modification system
A
Restriction endonuclease
Site specific DNA methylation enzymes
23
Q
Ligase chain reaction
A
A method of DNA amplification
Uses DNA ligase and polymerase
Probes are amplified
24
Restriction endonucleases requiring ATP
Type 1 cleaves DNA at random sites that can be 1000bp away from recognition sequence
Type 3 cleave DNA 25bp from recognition sequence
Both require ATP and have methylase activity
25
Type 2 restriction endonuclease
No ATP needed
| Cleaves the DNA within recognition sequence itself
26
Sticky ends synonyms
Cohesive
Overlapping
Staggered
27
Linking of blunt ends
Bacteriophage T4 ligase
Homopolymer tailing by terminal transferase
Adding synthetic sticky ends(linkers)
28
Screening for successfully transferred cells
Antibiotic resistance
Blue white screening
Direct sequencing
29
Fusion of cells in hybridoma technique is brought about by
PEG
electric field
Laser
Attaching viral particles like inactivated rota or Sendai virus
30
Microarray based CGH cannot detect
Inversions
| Balanced Translocations
31
Gene chips
DNA microarrays
32
Landmarks for genome sequencing projects
Sequence tagged sites (STS)
33
Contig
In genomic DNA library a set of overlapping clones represent a catalog for long contiguous segment of a genome
34
Markers in cDNA library
Green fluorescent protein
| Epitope tag
35
5' exonuclease used in rDNA technology
Bacteriophage lambda exonuclease
36
3' Exonuclease used in rDNA tech
Exonuclease III
37
Exonuclease that cleaves both 3' and 5' ends
BAL 31 nuclease
38
Nuclease that degrades single stranded DNA
S1 nuclease
| Removal of hairpin in synthesis of cDNA
39
Mapping of hypersensitive sites,enzymes used
DNase 1
| Produces single stranded nicks
40
Role of alkaline phosphatase in rDNA tech
Removes phosphate from 3' or 5 ' ends to prevent self ligation
41
Enzymes used in RDNA tech
Alkaline phosphatase
Polynucleotide kinase
Terminal transferase(for homopolymer tailing)
42
Genomics
Set of all genes in an organism
43
Proteomics
Quantitative and qualitative study of all proteins expressed by an organism
44
Preteome
Set of all proteins expressed by a cell at a particular time
45
Glycomics
Structure and function of chains of sugar
46
Cytogenetics
Study of structure and function of cell.esp chromosomes
47
Bioinformatics
Use of computer science,mathematics and biology to biological data
48
Pharmacogenomics
Study of genetically determined variations in responses to drugs in humans
49
Most rapid method of localising a gene or DNA fragment to a sub region of human chromosome
Radiation hybrid mapping
50
Chromosome walking
Involves repeated cloning of overlapping DNA fragments
The procedure is laborious
Usually cover only 100-200kb
51
Chromosome jumping
Cutting DNA into relatively large fragments and circularising it greater lengths of DNA can be covered
52
Techniques to transfer genes
```
Transfection
Micro injection
Electroporation
Site directed recombination
Transduction using adenovirus or retrovirus
Plasmid liposome complex
```
53
Gene therapy is used in
```
SCID
CF
familial hypercholesterolemia
LHON
DMD
HEMOPHILIA
```
54
Who discovered DNA finger printing
Alec.J.Jeffrey
55
Free ribosomes synthesise
Proteins that remain in cytosol or
Destined for mitochondria,peroxisomes,nuclei
Proteins destined for lysosomes are synthesised in RER
56
Signal peptide sequence targets the protein to
Membrane of ER
57
Mechanism of protein entry into ER
SRP induced translation arrest is relived after it binds to SRP receptor within ER
58
SRP blocks translation after
70 aminoacids
59
Proteins with diacidic sequences are targeted to
Golgi membranes(asp-x-glu)
60
Proteins targeted to nucles are tagged by
Nuclear localisation signal
61
Proteins targeted to peroxisomes have
PTS
| peroxisomal matrix targeting sequence
62
Mitochondrial matrix proteins have
Amino terminal sequence
63
Amino terminal KDEL seqeunce is needed for targeting to
Luminal surface of ER
64
Chaperone proteins
```
Calnexin
Calreticulin
Immunoglobulin heavy chain binding protein(Bip)
Glucose regulated protein(GRP)94
Protein disulfide isomerase(PDI)
Peptidyl prolyl isomerase(PPI)
```
65
Misfolded proteins in ER are transported to cytosol via
Translocon
66
Energy for translocation of misfolded proteins is provided by
p97
| an AAA-ATPase(ATP Associated with various cellular Activities)
67
Number of ubiquitin molecules that must be attached for degradation
Minimum of 4
68
Processing of peptides for MHC 1 is done by
Proteasome
69
Transport btw Golgi and ER
COP2 ante grade transport
COP1 retrograde transport
Cathrin free transport vesicles
70
Clathrin coated vesicles are involved in
Endocytosis
| Transport of cargo to lysosomes
71
Function of Golgi apparatus
```
Sorting and transport(trans Golgi)
O glycosylation(all parts of Golgi)
```
72
Normal prion protein is encoded in
Chr 20
73
Enzyme defects in hyperoxaluria
Type 1 alanine glyoxalate amino transferase
| Type 2 D glyceric dehydrogenase
74
Peroxisomal diseases
```
Hyperoxaluria 1
Hyper pipe colic acidemia
Zellweger syndrome
Adrenoleukodystrophy
Acatalasemia
Rhizomelic chondrodysplasia punctata
Infantile Refsum
Glutaryl CoA oxidase deficiency
```
75
Most common type of sigma
Sigma 70
76
Catalytic subunit of eukaryotic RNA polymerase
RBP2
77
RNA polymerase is activated by
Phosphorylation of serine and threonine residues in carboxy terminal repeat domain
78
Regulatory sequences are described by convention from
Coding strand
79
Transcription factor important in activating RNAP2
TF 2
| A to H except C and G
80
Transcription bubble is formed because of
Intrinsic unwindase activity in RNAP
81
Elements required for RNAP activity
Mg
| Zn
82
Intact triphosphate in primary transcript
First initiating purine base
83
U1
Binds to 5' exon intron boundary
84
U2
Binds to branch site
85
Eukaryotic promotors
Hogness/TATA box
DPE(distal promotor element)
Inr(initiator sequence)
Constitutive expression along with PPE
86
Proximal promotor elements
```
PPE
Found only in eukaryotes
GC box
CAAT box
AP1
Ig octamer
heat shock
Serum response
```
87
Sigma 32
Heat shock gene
88
TF bind to DNA through
Major groove
| TBP(TATA binding protein binds via minor groove)
89
Factor responsible for enhanced/augmented transcription
TAF of TF II D
| TATA binding protein Associated Factor
90
TF factor that binds tightly to RNAP2
TF2F
It prevents binding of RNAP2 to non specific sites
Brings it to promotor by binding with TF2B
91
TF2D
Has 1 TATA binding protein and 14 associated proteins
| It binds to TATA
92
TF2B
Recruits RNAP2 to promotor
| Binds to DNA and TBP of TF2D
93
TF2H
Helicase Activity which melts DNA near TSS
kinase activity phosphorylates CTD in RNAP2
It also recruits NER proteins
94
HAT
Histone acetyl transferase
Removes positive charge on lysine
Euchromatin is formed
95
Rx of alkaptonuria
Nitisinone
Also used in hereditary tyrosinemia type 1
