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principles of disease > chromosome biology > Flashcards

chromosome biology Flashcards

1
Q

what direction does DNA polymerase work in

A

5’ to 3’

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2
Q

what is the function of telomerase

A

protects the ends of the chromosome

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3
Q

what strand is the strand that has okazaki fragments

A

lagging strand

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4
Q

what are the phases of mitosis

A

G1, S (replication), G2, M (mitotic phase)

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5
Q

whats prophase

A

Chromosomes condense
Nuclear membrane disappears
Spindle fibres form from the centriole

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6
Q

whats metaphase

A

Chromosomes aligned at the equator of the cell
Attached by fibre to each centriole
Maximum condensation of chromosome

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7
Q

whats anaphase

A

Sister chromatids separate at centromere
Separate longitudinally
Move to opposite ends of cell

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8
Q

whats telophase

A

New nuclear membranes form

Each cell contains 46 chromosomes (diploid)

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9
Q

whats cytokinesis

A

Cytoplasm separates

Two new daughter cells

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10
Q

what is the purpose of centromeres

A

joins sister chromatids

site of kinetochore

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11
Q

whats interphase

A

genes are transcibed and dna replication occurs

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12
Q

whats the difference between heterochromatin and euchromatin

A

heterochromatin - condensed structure and silenced genes whereas euchromatin - open structure and actiive genes

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13
Q

what is the extragenic region?

A

DNA space between two genes of a genome

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14
Q

how is chromatin formed

A

dna packaged with histone proteins

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15
Q

what is the charge of histones?

A

positive

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16
Q

what are chromatins packaged into?

A

nucleosomes

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17
Q

what probe is useful for chromosome number?

A

centromeric probes

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18
Q

what probe is useful for detecting subtelomeric rearrangements

A

telomeric probes

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19
Q

whats the difference between meiosis and mitosis

A

meiosis is cell division in germ cells, diploid cells divide to form haploid (2 divides)

recombined copies as they mix

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20
Q

whats Oogenesis

A

process of egg formation

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21
Q

what is Spermatogenesis

A

process of sperm formation

22
Q

which sexual gametes has more divisions

A

males

23
Q

how many spermatids are produced per miosis

A

4

24
Q

what are the three types of chromosomal abnormalities

A

numerical, structural, mutational

25
Q

what is trisomy 21 and what is it caused by

A

down syndrome

non dysjunction

26
Q

what is the incident rate of trisomy 21

A

1 in 650 to 1 in 700

27
Q

what is trisomy 13?

A

paatau syndrome

28
Q

whats the incidence rate of trisomy 13

A

1 in 5000

29
Q

whats the cause of trisomy 13

A

non- dysjunction and unbalanced translocatoin

30
Q

what is triomy 18

A

edwards syndrome

31
Q

whats the incidence of trisome 18

A

1 in 3000

32
Q

whats the cause of trisomy 18

A

non-dysjunction

33
Q

what is 45,X?
what is its incidence
what are symptoms

A

turner syndrome and 1 in 5000 to 1 in 10000

females of short stature and infertile, neck webbing and widely spaced nipples

34
Q

what is 45,XXY and what is its incidence rate

A

klinefelter syndrome, 1 in 1000

tall stature, long limbs, male but infertile, small testes

35
Q

what is gynaecomastia

A

abnormal development of breast tissue in males

36
Q

what are the two types of translocations

A

Reciprocal: involving breaks in two chromosomes with formation of two new derivative chromosomes
Robertsonian: fusion of two acrocentric chromosomes

37
Q

what are the 4 structural abnormalities

A

translocation, deltiens, insertions and inversions

38
Q

whats the differemce between germline and somatic mutations

A

Somatic mutations – occur in a single body cell and cannot be inherited

Germline mutations – occur in gametes and can be passed onto offspring

39
Q

what are the 4 types of coding mutation

A

silent, missesnse, nonesense, frameshift

40
Q

what do we need for polymerase chain reaction

A

sequence information, oligonucleotide primers, DNA, nucleotides, DNA polymerase

41
Q

what are the three steps to PCR

A

dentaure, anneal, extend

42
Q

what temperature does annealing happen

A

50-70

43
Q

what are the advantages of gel elcetropheresis

A

speed, ease of use, sensitive, robust

44
Q

what are the advantages of ARMS (amplification refractory mutation system)

A

cheap
labelling not required
electrophoresis required
primer design critical

45
Q

what are the disadvantages of ARMS

A

needs sequence information
limited amplification size
limited amounts of product
infidelity of DNA replication

46
Q

whats the function of restriction endonuclease

A

protective mechanism, degrades dna of invading viruses

47
Q

what is restriction endonuclease?

A

enzymes from bacterial cells

48
Q

whats the advantages of restriction digest assay

A

simple, cheap, no radioactive, requires gel electrophereis, not always feasible

49
Q

what are the advantages/ limitations of DNA sequencing

A

gold standard for mutation detecting, automation and high throughput

expensive equipment
poor quality sequence read

50
Q

what would alter your choice of method

A 
direct test
quick and easy
cheap
sensitivity
specificity

principles of disease (39 decks)

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