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Bmsc > Survival guide > Flashcards

Survival guide Flashcards

1
Q

Leading strand replication

A

Polymerase

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2
Q

RNA

A

ribose, uracil

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3
Q

What does the DNA helix wrap around?

A

Positive histone octomer

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4
Q

Lagging strand replication

A

Ligase and Ozaki fragmments

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5
Q

1 rosette

A

6 loops

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6
Q

1 coil

A

30 rosettes

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7
Q

1 sister chromatid

A

10 coils

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8
Q

Chromosome

A

2 chromatids

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9
Q

Prophase

A

Chromosomes condense and form part of the mitotic spindle

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10
Q

Metaphase

A

Chromosomes line up in the centre of the dividing cell. Microtubules attach to each chromosome centromere via the kineticore.

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11
Q

Anaphase

A

The duplicated chromosomes are separated by contraction of the microtubules.

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12
Q

Telophase

A

The chromosomes reach the poles of the cell, and the two cells separate (Cytokinesis).
The chromosomes decondense and form part of the nucleus once more.

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13
Q

When does recombination occur in meiosis?

A

Prophase in meiosis 1

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13
Q

Recombination in meisosis

A

Homologous chromosomes pair and there is crossing over between the homologous chromatids.

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14
Q

Meiosis 2

A

Second round of division to make 4 haploid daughter cells

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15
Q

How many chromosomes in meiosis 1 cell

A

Double normal

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16
Q

Acrocentric chromosome

A

Only satellite DNA on the p arm

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16
Q

Which phase are chromosomes visualised in?

A

Metaphase

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17
Q

Balanced chromosome complement

A

Normal amount of each chromosome

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18
Q

Karyotype format

A

47 XY +21

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18
Q

Most common cause of ansuploidy

A

Nondisjunction

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19
Q

Translocation types

A

Robertsonian
Reciprocal

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19
Q

Which arm is lost in Robertsonian translocations?

A

p

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20
Q

22.q11.2

A

22 - chromosome
q - arm
1 - region
1 - band
2 - sub band

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21
Q

FISH steps

A

Complementary
DNA/RNA probe

Denaturation: Nicks are created in the DNA

Hybridisation: Nucleotides with a Fluorophore attached are incorporated into the strand

22
Q

What is FISH used for

A

Chromosomal abnormalities in cancer

23
Q

What do chromosomal microarray dots show?

A

Strong Patient DNA
Binding - Duplication

Normal Quantity of
DNA

Weak Patient DNA
Binding - Deletion

24
Q

Is CMA or karyotyping higher resolution?

A

CMA

25
Q

X inactivation mechanism

A

Starts at the Xist gene on one of the two X chromsomes in a cell

This expresses a large RNA molecule that coats the chromosome

Condensation of the inactive chromosome into heterochromatin, supressing gene transcription

26
Q

Inactivation transforms the chromosome into a _____ body.

A

Barr

27
Q

When is the X inactivation pattern removed?

A

Germ cell formation

28
Q

Splicing turns…

A

pre mRNA to mRNA.

29
Q

Splicing

A

Small Nuclear Ribonucleoproteins (SNRPs) recognise specific RNA sequences (called Motifs) forming a spliceosome.

30
Q

SNRP examples

A

Splice Acceptor
Splice Donor
Lariat sequences

31
Q

What does the spliceosome contain?

A

small nuclear RNAs (U1 - U6)

32
Q

How is the Lariat loop formed?

A

Chemical reaction cleaves the 5’ end of the intron from its upstream exon and attaches it to the branch point, forming a loop called a lariat

33
Q

tRNA structure (clockwise)

A

Acceptor stem
T loop
Anticodon loop
D loop

34
Q

Ribosome sites

A

APE

35
Q

T loop function

A

Stabilizing the tertiary RNA structure by facilitating long-range interactions between regions

36
Q

D loop function

A

Recognition site for the enzyme aminoacyl-tRNA synthetase

37
Q

Acceptor stem function

A

Codes for amino acid sizes

38
Q

Stop codons

A

UGA
UAG
UAU

39
Q

Post translational modification examples

A

Folding
Transport
Side chains
Peptide assosciation

40
Q

N-linked glycosylation

A

Attachment of an oligosaccharide to nitrogen affects folding and the quality control of proteins in the ER

41
Q

Types of damage

A

Endogenous
Exogenous

41
Q

Loss of nucleotide excision repair: example

A

Xeroderma pigmentosa

42
Q

Loss of homologous recombination: example

A

BRCA1

43
Q

Mendel’s law of independent segregation

A

Recombination in meiosis 1

44
Q

Frameshift writing example

A

c.6delA
p.Lys2Asnfs

45
Q

Stages if spermatogenesis

A

Spermatogonium

Primary spermatocyte

Secondary spermatocyte

Spermatids

46
Q

Next generation sequencing

A

The sequences of the fragments are aligned against a reference genome sequence.

If there is a variant in one copy of the genome, half the sequences will show the genetic variation compared to the reference sequence.

47
Q

X chromosome

A

153 million base pairs

48
Q

Y chromosome

A

58 million base pairs

49
Q

Multiple mitochondria

A

Multiple copies of the mitochondrial genome in each cell

50
Q

Activator protein binds to…

A

Enhancer region

51
Q

How is methylation passed on to daughter cells?

A

DNA methyltransferase 1 (DNTM1) at mitosis

52
Q

How does methylation prevent transcription?

A

Prevents binding of transcription factors and indirectly causes deacetylation of histones

53
Q
A
54
Q
A
55
Q

Yippee!

A

Bmsc (17 decks)

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