Dvt Genetics Flashcards

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1
Q

Distance bw two base pairs in double stranded dna

A

0.34 nm

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2
Q

Width of dna is

A

2nm

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3
Q

Nucleosome bead

A

8 histone molecules 146 base pairs of dna

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4
Q

Parts of chromosomes

A
Heterochromatin
More condensed ,silenced genes(methylated)
Gene poor (high AT comtent)
Stains darker
Euchromatin
Less condensed
Gene expressing
Gene rich(higher GC content)
Stains lighter
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5
Q

Chargaffs rule

A

Applicable for double stranded dna
A pairs with T
G paira with C
Or
Number of purine equal to number of pyrimidines
Or
Ratio of purine bases and pyramidine bases is 1

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6
Q

Denaturants for dna is

A

Heat
Denaturation occurs by increasing the temperature or decreasing the salt concentration
Tem fold increase in monovalent cation increases tm ( melting temp) by 16.6 degree celsius

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7
Q

Human mitochondrial dna

A

Double stranded circular dna coming from ovum
16569 base pairs
Protein syntehsis
Codes for 13 protein that play a key role in electron transport chain

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8
Q

Motochondrial dna is replicated by

A

DNA polymerase gama

Mutation very common

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9
Q

Gentic code

A
Codon made up of 3 nucleotides
Read continuosly
Non overlaping
Degeneracy-multiple codon of same amino acid(due to wobbling-proposed by crick-base pairing may not be followed)
Unambiguous -
Universal (nearly)
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10
Q

Donor of atoms for purine ring

A
Aspartate
N10 formyltetrahydrofolate
Amide nitrogen of glutamine
N5 n10 methenyk tetrahydrdolate
Glycine
Respiratory co2
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11
Q

Salvage pathway. For purine aymthesis

Enzyme

A

Adenine phosphoribosyl transeferase
Hypocanthine guanine phosphoribosyl transferase
Hypoxanthine guanine phosphoribosyl transferase

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12
Q

Final metabolic byproduct of Purine nucleotide metabolism

A

Uric acid

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13
Q

Aource of atoms for pgramidine in denovo synthesis

A

Aspartate (major)
Ribose 5 phosphate
Co2
Glutamine

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14
Q

Main emzyme of dna replication in prokaryotes

A

Dna polymerase 3

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15
Q

Removal of rna primer removal and repair

A

Dna polymerase 1

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16
Q

Kornberg enzyme and klenow fragment

A

Invented dna polymerase 1 holoenzyme

Large fragment klenow fragmnwt doesnt have 5-3 exonuclease activity

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17
Q

Profucts of eukaryotic rna polymerase

A

Mrna
Most sn rna
Mi rna

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18
Q

Product of eukaryotic rna polymerase 3

A

5 s rna
Trna
U6 sn Rna

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19
Q

Product of eukaryotic rna polymerase 1

A

45 s pre rna

20
Q

Very sensitive rna polymerse to alphaamnitin

A

Rna polymerase 2
Rna polymerase 1 insensitive
Rna polymerase 3 moderately sensitive

21
Q

Core enzyme

A

Alpha2 beta beta prime and omega

22
Q

Foot pf rna polymerase in prokaryotes

A

Sigma factor identity the promoter of the gene and bind

23
Q

Post transcriptinal modification of hnRNA

A

1)Capping at 5 prime end-nuclear process transferred by guanylyk transferase
Methylation in cytosol by guanine 7 methyl transferase
2) poly A tail-40-250 adenine nucleotide attached to 3 prime end
Poluadenylate polymerase
3) splicing
Via spliceosome

24
Q

Mrna editing programme

A

Same gene produced Apo b 48. In intestinal cell and Apo b 100 in liver cells

25
Q

Dna repair defect inHNPCC

A

Mismatch defect

26
Q

Dna repair defect in Bloom syndrome

A

Helicase defect

27
Q

Dna repair defect in cockayne syndrome

A

Transcription coupled repair

28
Q

Dna repair defect in bteast cancer

A

Ss/ds break repair

29
Q

Dna repair defect in xeroderma pigmentosa

A

Nucleotide excision defect

30
Q

Non coding regulatory rna

A

1)Mi(micro) Rna single atarnded profuced by double starnded precusor endogenous
2)si RNA double stramded endogenous or exogenous
Both are responsible for shutting of mrna gene knock down

31
Q

Moat commonly user restriction enzyme in various technologies

A

Type 2 enzymes

32
Q

Fish technology (flurescnese in aitu hybridization)

A

MoleculR cytogenetic technique which uses flouriscent probe which is complementary to the apecefic dna sequence

33
Q

Types of probes in fish techniques

A

Centromere probe
Telomere probe
Whole chromosome probe
Locus probe-gene detection and localization,gene amplification,deletion,translocation

34
Q

Probe in fish may be

A

Ds dna probe
Ss dna probe
Rna probe
Synthetic oligonucleotide probe

35
Q

Radioactive labellng of probe in FISH

A

32p
35S
3H

36
Q

Nonradioactive isotope labellimg in FISH

A

Biotin
Fluorescent dye
Digixigenin

37
Q

Application of FISH

A

1)Karyotyping-aneuploidy(trisomy,deletion of whole chromosome)
Chronosomal aberration- deltion,duplication,translocation
2)developmental biology-gene expression profiling in embryonic tissue

38
Q

Microaray

A

..

39
Q

DNA sequencing by sanger

A

Di deoxynucleotide chain termination method

40
Q

Restriction fragment length polymorphism (RFLP)

A

Based on variation of the restriction site in an individual DNA which may result from polymorphism or mutation

41
Q

Polymorphism

A

Inherent variablity in the sequence of DNA
Two types
1)SNP single nucleotide poly
2)VNTR variable nr of tantem repeat-minisatelikte and micro satelite

42
Q

RFLP uses

A

Disease diagnosis
forensic investigations
Paternity dispute

43
Q

Polymerase chain reaction

A

Kary mullis 1984

Target and flanking sequence

44
Q

Components required for pcr

A
Target dna
Dntps(all 4 varuety)
Dna polymerase(thermostable)
Pair of primer(20-30nucleotide)
Magnesium 
Buffer
45
Q

Cycle of pcr

A

1) Denaturation-94degree celsius for 10 minutes
2) annealing:45 degree celsius for 4 minutes
3) elongation:72 degr celcaius variable time depenfing on the length

46
Q

Application of pcr

A

In medicine- detection of bacteria and virus
Early detection of cancer
Monitor cancer chemotherapy
In forensic and legal medicine-parentage dispute
Criminal case
Evolutional study

47
Q

Real time pcr(qpcr)

A
Quantitative pcr
Types of real timed reporters
1) SYBR green
2)Taq Mann
3)Molecular Beacons